SNP Links for Protein (Select 50952468) - SNP

Links from Protein

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Select item 14834636751.

rs1483463675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:3023899 (GRCh38)
16:3073900 (GRCh37)
Canonical SPDI:: NC_000016.10:3023898:C:A
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.3023899C>A, NC_000016.9:g.3073900C>A, NG_052595.1:g.4881C>A, NM_017885.4:c.43G>T, NM_017885.3:c.43G>T, NM_017885.2:c.43G>T, NM_001002017.2:c.43G>T, NM_001002017.1:c.43G>T, NM_001002018.2:c.43G>T, NM_001002018.1:c.43G>T, XM_017023384.2:c.43G>T, XM_017023384.1:c.43G>T, NM_001288667.1:c.43G>T, NM_001288665.1:c.43G>T, NM_001288668.1:c.-259G>T, NM_001288666.1:c.43G>T, NP_060355.1:p.Ala15Ser, NP_001002017.1:p.Ala15Ser, NP_001002018.1:p.Ala15Ser, XP_016878873.1:p.Ala15Ser, NP_001275596.1:p.Ala15Ser, NP_001275594.1:p.Ala15Ser, NP_001275595.1:p.Ala15Ser

Select item 14748131362.

rs1474813136 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:3023863 (GRCh38)
16:3073864 (GRCh37)
Canonical SPDI:: NC_000016.10:3023862:A:C
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.3023863A>C, NC_000016.9:g.3073864A>C, NG_052595.1:g.4845A>C, NM_017885.4:c.79T>G, NM_017885.3:c.79T>G, NM_017885.2:c.79T>G, NM_001002017.2:c.79T>G, NM_001002017.1:c.79T>G, NM_001002018.2:c.79T>G, NM_001002018.1:c.79T>G, XM_017023384.2:c.79T>G, XM_017023384.1:c.79T>G, NM_001288667.1:c.79T>G, NM_001288665.1:c.79T>G, NM_001288668.1:c.-223T>G, NM_001288666.1:c.79T>G, NP_060355.1:p.Trp27Gly, NP_001002017.1:p.Trp27Gly, NP_001002018.1:p.Trp27Gly, XP_016878873.1:p.Trp27Gly, NP_001275596.1:p.Trp27Gly, NP_001275594.1:p.Trp27Gly, NP_001275595.1:p.Trp27Gly

Select item 14733526473.

rs1473352647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3022911 (GRCh38)
16:3072912 (GRCh37)
Canonical SPDI:: NC_000016.10:3022910:G:A
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
HGVS:: NC_000016.10:g.3022911G>A, NC_000016.9:g.3072912G>A, NG_052595.1:g.3893G>A, NM_017885.4:c.369C>T, NM_017885.3:c.369C>T, NM_017885.2:c.369C>T, XM_011522559.4:c.180C>T, XM_011522559.3:c.180C>T, XM_011522559.2:c.180C>T, XM_011522559.1:c.180C>T, NM_001002017.2:c.312C>T, NM_001002017.1:c.312C>T, NM_001002018.2:c.369C>T, NM_001002018.1:c.369C>T, XM_017023384.2:c.363C>T, XM_017023384.1:c.363C>T, NM_001288667.1:c.363C>T, NM_001288665.1:c.369C>T, NM_001288668.1:c.180C>T, NM_001288666.1:c.312C>T, NM_001308070.1:c.249C>T, XM_047434301.1:c.180C>T

Select item 14710137404.

rs1471013740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3023857 (GRCh38)
16:3073858 (GRCh37)
Canonical SPDI:: NC_000016.10:3023856:G:A
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000016.10:g.3023857G>A, NC_000016.9:g.3073858G>A, NG_052595.1:g.4839G>A, NM_017885.4:c.85C>T, NM_017885.3:c.85C>T, NM_017885.2:c.85C>T, NM_001002017.2:c.85C>T, NM_001002017.1:c.85C>T, NM_001002018.2:c.85C>T, NM_001002018.1:c.85C>T, XM_017023384.2:c.85C>T, XM_017023384.1:c.85C>T, NM_001288667.1:c.85C>T, NM_001288665.1:c.85C>T, NM_001288668.1:c.-217C>T, NM_001288666.1:c.85C>T

Select item 14694766045.

rs1469476604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:3022966 (GRCh38)
16:3072967 (GRCh37)
Canonical SPDI:: NC_000016.10:3022965:T:C
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.3022966T>C, NC_000016.9:g.3072967T>C, NG_052595.1:g.3948T>C, NM_017885.4:c.314A>G, NM_017885.3:c.314A>G, NM_017885.2:c.314A>G, XM_011522559.4:c.125A>G, XM_011522559.3:c.125A>G, XM_011522559.2:c.125A>G, XM_011522559.1:c.125A>G, NM_001002017.2:c.257A>G, NM_001002017.1:c.257A>G, NM_001002018.2:c.314A>G, NM_001002018.1:c.314A>G, XM_017023384.2:c.308A>G, XM_017023384.1:c.308A>G, NM_001288667.1:c.308A>G, NM_001288665.1:c.314A>G, NM_001288668.1:c.125A>G, NM_001288666.1:c.257A>G, NM_001308070.1:c.194A>G, XM_047434301.1:c.125A>G, NP_060355.1:p.Tyr105Cys, XP_011520861.1:p.Tyr42Cys, NP_001002017.1:p.Tyr86Cys, NP_001002018.1:p.Tyr105Cys, XP_016878873.1:p.Tyr103Cys, NP_001275596.1:p.Tyr103Cys, NP_001275594.1:p.Tyr105Cys, NP_001275597.1:p.Tyr42Cys, NP_001275595.1:p.Tyr86Cys, NP_001294999.1:p.Tyr65Cys, XP_047290257.1:p.Tyr42Cys

Select item 14694365026.

rs1469436502 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:3023938 (GRCh38)
16:3073939 (GRCh37)
Canonical SPDI:: NC_000016.10:3023937:T:C
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3023938T>C, NC_000016.9:g.3073939T>C, NG_052595.1:g.4920T>C, NM_017885.4:c.4A>G, NM_017885.3:c.4A>G, NM_017885.2:c.4A>G, NM_001002017.2:c.4A>G, NM_001002017.1:c.4A>G, NM_001002018.2:c.4A>G, NM_001002018.1:c.4A>G, XM_017023384.2:c.4A>G, XM_017023384.1:c.4A>G, NM_001288667.1:c.4A>G, NM_001288665.1:c.4A>G, NM_001288668.1:c.-298A>G, NM_001288666.1:c.4A>G, NP_060355.1:p.Ile2Val, NP_001002017.1:p.Ile2Val, NP_001002018.1:p.Ile2Val, XP_016878873.1:p.Ile2Val, NP_001275596.1:p.Ile2Val, NP_001275594.1:p.Ile2Val, NP_001275595.1:p.Ile2Val

Select item 14670635557.

rs1467063555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:3023238 (GRCh38)
16:3073239 (GRCh37)
Canonical SPDI:: NC_000016.10:3023237:T:C
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.3023238T>C, NC_000016.9:g.3073239T>C, NG_052595.1:g.4220T>C, NM_017885.4:c.276A>G, NM_017885.3:c.276A>G, NM_017885.2:c.276A>G, XM_011522559.4:c.87A>G, XM_011522559.3:c.87A>G, XM_011522559.2:c.87A>G, XM_011522559.1:c.87A>G, NM_001002017.2:c.219A>G, NM_001002017.1:c.219A>G, NM_001002018.2:c.276A>G, NM_001002018.1:c.276A>G, XM_017023384.2:c.270A>G, XM_017023384.1:c.270A>G, NM_001288667.1:c.270A>G, NM_001288665.1:c.276A>G, NM_001288668.1:c.87A>G, NM_001288666.1:c.219A>G, NM_001308070.1:c.156A>G, XM_047434301.1:c.87A>G

Select item 14654725078.

rs1465472507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3023283 (GRCh38)
16:3073284 (GRCh37)
Canonical SPDI:: NC_000016.10:3023282:G:A
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000016.10:g.3023283G>A, NC_000016.9:g.3073284G>A, NG_052595.1:g.4265G>A, NM_017885.4:c.231C>T, NM_017885.3:c.231C>T, NM_017885.2:c.231C>T, XM_011522559.4:c.42C>T, XM_011522559.3:c.42C>T, XM_011522559.2:c.42C>T, XM_011522559.1:c.42C>T, NM_001002017.2:c.174C>T, NM_001002017.1:c.174C>T, NM_001002018.2:c.231C>T, NM_001002018.1:c.231C>T, XM_017023384.2:c.225C>T, XM_017023384.1:c.225C>T, NM_001288667.1:c.225C>T, NM_001288665.1:c.231C>T, NM_001288668.1:c.42C>T, NM_001288666.1:c.174C>T, NM_001308070.1:c.111C>T, XM_047434301.1:c.42C>T

Select item 14575603899.

rs1457560389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:3023892 (GRCh38)
16:3073893 (GRCh37)
Canonical SPDI:: NC_000016.10:3023891:C:G
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3023892C>G, NC_000016.9:g.3073893C>G, NG_052595.1:g.4874C>G, NM_017885.4:c.50G>C, NM_017885.3:c.50G>C, NM_017885.2:c.50G>C, NM_001002017.2:c.50G>C, NM_001002017.1:c.50G>C, NM_001002018.2:c.50G>C, NM_001002018.1:c.50G>C, XM_017023384.2:c.50G>C, XM_017023384.1:c.50G>C, NM_001288667.1:c.50G>C, NM_001288665.1:c.50G>C, NM_001288668.1:c.-252G>C, NM_001288666.1:c.50G>C, NP_060355.1:p.Arg17Pro, NP_001002017.1:p.Arg17Pro, NP_001002018.1:p.Arg17Pro, XP_016878873.1:p.Arg17Pro, NP_001275596.1:p.Arg17Pro, NP_001275594.1:p.Arg17Pro, NP_001275595.1:p.Arg17Pro

Select item 145454321710.

rs1454543217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3023519 (GRCh38)
16:3073520 (GRCh37)
Canonical SPDI:: NC_000016.10:3023518:C:T
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.3023519C>T, NC_000016.9:g.3073520C>T, NG_052595.1:g.4501C>T, NM_017885.4:c.107G>A, NM_017885.3:c.107G>A, NM_017885.2:c.107G>A, NM_001002018.2:c.107G>A, NM_001002018.1:c.107G>A, NM_001288665.1:c.107G>A, NM_001288668.1:c.-195G>A, NM_001308070.1:c.-14G>A, NP_060355.1:p.Arg36Gln, NP_001002018.1:p.Arg36Gln, NP_001275594.1:p.Arg36Gln

Select item 145067738411.

rs1450677384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3023927 (GRCh38)
16:3073928 (GRCh37)
Canonical SPDI:: NC_000016.10:3023926:C:T
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant
HGVS:: NC_000016.10:g.3023927C>T, NC_000016.9:g.3073928C>T, NG_052595.1:g.4909C>T, NM_017885.4:c.15G>A, NM_017885.3:c.15G>A, NM_017885.2:c.15G>A, NM_001002017.2:c.15G>A, NM_001002017.1:c.15G>A, NM_001002018.2:c.15G>A, NM_001002018.1:c.15G>A, XM_017023384.2:c.15G>A, XM_017023384.1:c.15G>A, NM_001288667.1:c.15G>A, NM_001288665.1:c.15G>A, NM_001288668.1:c.-287G>A, NM_001288666.1:c.15G>A

Select item 143710564412.

rs1437105644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:3022866 (GRCh38)
16:3072867 (GRCh37)
Canonical SPDI:: NC_000016.10:3022865:G:C
Gene:: TNFRSF12A (Varview), HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.3022866G>C, NC_000016.9:g.3072867G>C, NG_052595.1:g.3848G>C, NM_017885.4:c.414C>G, NM_017885.3:c.414C>G, NM_017885.2:c.414C>G, XM_011522559.4:c.225C>G, XM_011522559.3:c.225C>G, XM_011522559.2:c.225C>G, XM_011522559.1:c.225C>G, NM_001002017.2:c.357C>G, NM_001002017.1:c.357C>G, NM_001002018.2:c.414C>G, NM_001002018.1:c.414C>G, XM_017023384.2:c.408C>G, XM_017023384.1:c.408C>G, NM_001288667.1:c.408C>G, NM_001288665.1:c.414C>G, NM_001288668.1:c.225C>G, NM_001288666.1:c.357C>G, NM_001308070.1:c.294C>G, XM_047434301.1:c.225C>G

Select item 143652001313.

rs1436520013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:3023934 (GRCh38)
16:3073935 (GRCh37)
Canonical SPDI:: NC_000016.10:3023933:A:G
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000016.10:g.3023934A>G, NC_000016.9:g.3073935A>G, NG_052595.1:g.4916A>G, NM_017885.4:c.8T>C, NM_017885.3:c.8T>C, NM_017885.2:c.8T>C, NM_001002017.2:c.8T>C, NM_001002017.1:c.8T>C, NM_001002018.2:c.8T>C, NM_001002018.1:c.8T>C, XM_017023384.2:c.8T>C, XM_017023384.1:c.8T>C, NM_001288667.1:c.8T>C, NM_001288665.1:c.8T>C, NM_001288668.1:c.-294T>C, NM_001288666.1:c.8T>C, NP_060355.1:p.Leu3Pro, NP_001002017.1:p.Leu3Pro, NP_001002018.1:p.Leu3Pro, XP_016878873.1:p.Leu3Pro, NP_001275596.1:p.Leu3Pro, NP_001275594.1:p.Leu3Pro, NP_001275595.1:p.Leu3Pro

Select item 143295427914.

rs1432954279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:3022991 (GRCh38)
16:3072992 (GRCh37)
Canonical SPDI:: NC_000016.10:3022990:A:G
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.3022991A>G, NC_000016.9:g.3072992A>G, NG_052595.1:g.3973A>G, NM_017885.4:c.289T>C, NM_017885.3:c.289T>C, NM_017885.2:c.289T>C, XM_011522559.4:c.100T>C, XM_011522559.3:c.100T>C, XM_011522559.2:c.100T>C, XM_011522559.1:c.100T>C, NM_001002017.2:c.232T>C, NM_001002017.1:c.232T>C, NM_001002018.2:c.289T>C, NM_001002018.1:c.289T>C, XM_017023384.2:c.283T>C, XM_017023384.1:c.283T>C, NM_001288667.1:c.283T>C, NM_001288665.1:c.289T>C, NM_001288668.1:c.100T>C, NM_001288666.1:c.232T>C, NM_001308070.1:c.169T>C, XM_047434301.1:c.100T>C, NP_060355.1:p.Cys97Arg, XP_011520861.1:p.Cys34Arg, NP_001002017.1:p.Cys78Arg, NP_001002018.1:p.Cys97Arg, XP_016878873.1:p.Cys95Arg, NP_001275596.1:p.Cys95Arg, NP_001275594.1:p.Cys97Arg, NP_001275597.1:p.Cys34Arg, NP_001275595.1:p.Cys78Arg, NP_001294999.1:p.Cys57Arg, XP_047290257.1:p.Cys34Arg

Select item 142565389915.

rs1425653899 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:3023302 (GRCh38)
16:3073303 (GRCh37)
Canonical SPDI:: NC_000016.10:3023300:GAG:G
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.3023302_3023303del, NC_000016.9:g.3073303_3073304del, NG_052595.1:g.4284_4285del, NM_017885.4:c.212_213del, NM_017885.3:c.212_213del, NM_017885.2:c.212_213del, XM_011522559.4:c.23_24del, XM_011522559.3:c.23_24del, XM_011522559.2:c.23_24del, XM_011522559.1:c.23_24del, NM_001002017.2:c.155_156del, NM_001002017.1:c.155_156del, NM_001002018.2:c.212_213del, NM_001002018.1:c.212_213del, XM_017023384.2:c.206_207del, XM_017023384.1:c.206_207del, NM_001288667.1:c.206_207del, NM_001288665.1:c.212_213del, NM_001288668.1:c.23_24del, NM_001288666.1:c.155_156del, NM_001308070.1:c.92_93del, XM_047434301.1:c.23_24del, NP_060355.1:p.Leu71fs, XP_011520861.1:p.Leu8fs, NP_001002017.1:p.Leu52fs, NP_001002018.1:p.Leu71fs, XP_016878873.1:p.Leu69fs, NP_001275596.1:p.Leu69fs, NP_001275594.1:p.Leu71fs, NP_001275597.1:p.Leu8fs, NP_001275595.1:p.Leu52fs, NP_001294999.1:p.Leu31fs, XP_047290257.1:p.Leu8fs

Select item 142432409816.

rs1424324098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3023861 (GRCh38)
16:3073862 (GRCh37)
Canonical SPDI:: NC_000016.10:3023860:C:T
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,stop_gained,coding_sequence_variant
HGVS:: NC_000016.10:g.3023861C>T, NC_000016.9:g.3073862C>T, NG_052595.1:g.4843C>T, NM_017885.4:c.81G>A, NM_017885.3:c.81G>A, NM_017885.2:c.81G>A, NM_001002017.2:c.81G>A, NM_001002017.1:c.81G>A, NM_001002018.2:c.81G>A, NM_001002018.1:c.81G>A, XM_017023384.2:c.81G>A, XM_017023384.1:c.81G>A, NM_001288667.1:c.81G>A, NM_001288665.1:c.81G>A, NM_001288668.1:c.-221G>A, NM_001288666.1:c.81G>A, NP_060355.1:p.Trp27Ter, NP_001002017.1:p.Trp27Ter, NP_001002018.1:p.Trp27Ter, XP_016878873.1:p.Trp27Ter, NP_001275596.1:p.Trp27Ter, NP_001275594.1:p.Trp27Ter, NP_001275595.1:p.Trp27Ter

Select item 141718794717.

rs1417187947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3022980 (GRCh38)
16:3072981 (GRCh37)
Canonical SPDI:: NC_000016.10:3022979:C:T
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.3022980C>T, NC_000016.9:g.3072981C>T, NG_052595.1:g.3962C>T, NM_017885.4:c.300G>A, NM_017885.3:c.300G>A, NM_017885.2:c.300G>A, XM_011522559.4:c.111G>A, XM_011522559.3:c.111G>A, XM_011522559.2:c.111G>A, XM_011522559.1:c.111G>A, NM_001002017.2:c.243G>A, NM_001002017.1:c.243G>A, NM_001002018.2:c.300G>A, NM_001002018.1:c.300G>A, XM_017023384.2:c.294G>A, XM_017023384.1:c.294G>A, NM_001288667.1:c.294G>A, NM_001288665.1:c.300G>A, NM_001288668.1:c.111G>A, NM_001288666.1:c.243G>A, NM_001308070.1:c.180G>A, XM_047434301.1:c.111G>A

Select item 140654840518.

rs1406548405 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:3023344 (GRCh38)
16:3073345 (GRCh37)
Canonical SPDI:: NC_000016.10:3023343:T:C
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3023344T>C, NC_000016.9:g.3073345T>C, NG_052595.1:g.4326T>C, NM_017885.4:c.170A>G, NM_017885.3:c.170A>G, NM_017885.2:c.170A>G, XM_011522559.4:c.-20A>G, XM_011522559.3:c.-20A>G, XM_011522559.2:c.-20A>G, XM_011522559.1:c.-20A>G, NM_001002017.2:c.113A>G, NM_001002017.1:c.113A>G, NM_001002018.2:c.170A>G, NM_001002018.1:c.170A>G, XM_017023384.2:c.164A>G, XM_017023384.1:c.164A>G, NM_001288667.1:c.164A>G, NM_001288665.1:c.170A>G, NM_001288668.1:c.-20A>G, NM_001288666.1:c.113A>G, NM_001308070.1:c.50A>G, XM_047434301.1:c.-20A>G, NP_060355.1:p.Gln57Arg, NP_001002017.1:p.Gln38Arg, NP_001002018.1:p.Gln57Arg, XP_016878873.1:p.Gln55Arg, NP_001275596.1:p.Gln55Arg, NP_001275594.1:p.Gln57Arg, NP_001275595.1:p.Gln38Arg, NP_001294999.1:p.Gln17Arg

Select item 138042824619.

rs1380428246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3023877 (GRCh38)
16:3073878 (GRCh37)
Canonical SPDI:: NC_000016.10:3023876:G:A
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3023877G>A, NC_000016.9:g.3073878G>A, NG_052595.1:g.4859G>A, NM_017885.4:c.65C>T, NM_017885.3:c.65C>T, NM_017885.2:c.65C>T, NM_001002017.2:c.65C>T, NM_001002017.1:c.65C>T, NM_001002018.2:c.65C>T, NM_001002018.1:c.65C>T, XM_017023384.2:c.65C>T, XM_017023384.1:c.65C>T, NM_001288667.1:c.65C>T, NM_001288665.1:c.65C>T, NM_001288668.1:c.-237C>T, NM_001288666.1:c.65C>T, NP_060355.1:p.Ala22Val, NP_001002017.1:p.Ala22Val, NP_001002018.1:p.Ala22Val, XP_016878873.1:p.Ala22Val, NP_001275596.1:p.Ala22Val, NP_001275594.1:p.Ala22Val, NP_001275595.1:p.Ala22Val

Select item 138038422620.

rs1380384226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:3022891 (GRCh38)
16:3072892 (GRCh37)
Canonical SPDI:: NC_000016.10:3022890:G:A,NC_000016.10:3022890:G:T
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.3022891G>A, NC_000016.10:g.3022891G>T, NC_000016.9:g.3072892G>A, NC_000016.9:g.3072892G>T, NG_052595.1:g.3873G>A, NG_052595.1:g.3873G>T, NM_017885.4:c.389C>T, NM_017885.4:c.389C>A, NM_017885.3:c.389C>T, NM_017885.3:c.389C>A, NM_017885.2:c.389C>T, NM_017885.2:c.389C>A, XM_011522559.4:c.200C>T, XM_011522559.4:c.200C>A, XM_011522559.3:c.200C>T, XM_011522559.3:c.200C>A, XM_011522559.2:c.200C>T, XM_011522559.2:c.200C>A, XM_011522559.1:c.200C>T, XM_011522559.1:c.200C>A, NM_001002017.2:c.332C>T, NM_001002017.2:c.332C>A, NM_001002017.1:c.332C>T, NM_001002017.1:c.332C>A, NM_001002018.2:c.389C>T, NM_001002018.2:c.389C>A, NM_001002018.1:c.389C>T, NM_001002018.1:c.389C>A, XM_017023384.2:c.383C>T, XM_017023384.2:c.383C>A, XM_017023384.1:c.383C>T, XM_017023384.1:c.383C>A, NM_001288667.1:c.383C>T, NM_001288667.1:c.383C>A, NM_001288665.1:c.389C>T, NM_001288665.1:c.389C>A, NM_001288668.1:c.200C>T, NM_001288668.1:c.200C>A, NM_001288666.1:c.332C>T, NM_001288666.1:c.332C>A, NM_001308070.1:c.269C>T, NM_001308070.1:c.269C>A, XM_047434301.1:c.200C>T, XM_047434301.1:c.200C>A, NP_060355.1:p.Thr130Ile, NP_060355.1:p.Thr130Asn, XP_011520861.1:p.Thr67Ile, XP_011520861.1:p.Thr67Asn, NP_001002017.1:p.Thr111Ile, NP_001002017.1:p.Thr111Asn, NP_001002018.1:p.Thr130Ile, NP_001002018.1:p.Thr130Asn, XP_016878873.1:p.Thr128Ile, XP_016878873.1:p.Thr128Asn, NP_001275596.1:p.Thr128Ile, NP_001275596.1:p.Thr128Asn, NP_001275594.1:p.Thr130Ile, NP_001275594.1:p.Thr130Asn, NP_001275597.1:p.Thr67Ile, NP_001275597.1:p.Thr67Asn, NP_001275595.1:p.Thr111Ile, NP_001275595.1:p.Thr111Asn, NP_001294999.1:p.Thr90Ile, NP_001294999.1:p.Thr90Asn, XP_047290257.1:p.Thr67Ile, XP_047290257.1:p.Thr67Asn

dbSNP

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