SNP Links for Protein (Select 767932972) - SNP

Links from Protein

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Select item 14898101701.

rs1489810170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:118352534 (GRCh38)
4:119273689 (GRCh37)
Canonical SPDI:: NC_000004.12:118352533:G:A
Gene:: PRSS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000026/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.118352534G>A, NC_000004.11:g.119273689G>A, NG_023350.1:g.5234C>T, NM_003619.4:c.187C>T, NM_003619.3:c.187C>T, XM_005263318.5:c.187C>T, XM_005263318.4:c.187C>T, XM_005263318.3:c.187C>T, XM_005263318.2:c.187C>T, XM_005263318.1:c.187C>T, XM_011532387.3:c.187C>T, XM_011532387.2:c.187C>T, XM_011532387.1:c.187C>T, NP_003610.2:p.Pro63Ser, XP_005263375.1:p.Pro63Ser, XP_011530689.1:p.Pro63Ser

Select item 14891316822.

rs1489131682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:118318500 (GRCh38)
4:119239655 (GRCh37)
Canonical SPDI:: NC_000004.12:118318499:A:G
Gene:: PRSS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.118318500A>G, NC_000004.11:g.119239655A>G, NG_023350.1:g.39268T>C, NM_003619.4:c.1028T>C, NM_003619.3:c.1028T>C, XM_005263318.5:c.1028T>C, XM_005263318.4:c.1028T>C, XM_005263318.3:c.1028T>C, XM_005263318.2:c.1028T>C, XM_005263318.1:c.1028T>C, XM_011532387.3:c.1028T>C, XM_011532387.2:c.1028T>C, XM_011532387.1:c.1028T>C, NP_003610.2:p.Met343Thr, XP_005263375.1:p.Met343Thr, XP_011530689.1:p.Met343Thr

Select item 14868983123.

rs1486898312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:118338274 (GRCh38)
4:119259429 (GRCh37)
Canonical SPDI:: NC_000004.12:118338273:G:A
Gene:: PRSS12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.118338274G>A, NC_000004.11:g.119259429G>A, NG_023350.1:g.19494C>T, NM_003619.4:c.543C>T, NM_003619.3:c.543C>T, XM_005263318.5:c.543C>T, XM_005263318.4:c.543C>T, XM_005263318.3:c.543C>T, XM_005263318.2:c.543C>T, XM_005263318.1:c.543C>T, XM_011532387.3:c.543C>T, XM_011532387.2:c.543C>T, XM_011532387.1:c.543C>T

Select item 14851570694.

rs1485157069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:118352313 (GRCh38)
4:119273468 (GRCh37)
Canonical SPDI:: NC_000004.12:118352312:G:C
Gene:: PRSS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.118352313G>C, NC_000004.11:g.119273468G>C, NG_023350.1:g.5455C>G, NM_003619.4:c.408C>G, NM_003619.3:c.408C>G, XM_005263318.5:c.408C>G, XM_005263318.4:c.408C>G, XM_005263318.3:c.408C>G, XM_005263318.2:c.408C>G, XM_005263318.1:c.408C>G, XM_011532387.3:c.408C>G, XM_011532387.2:c.408C>G, XM_011532387.1:c.408C>G, NP_003610.2:p.Asn136Lys, XP_005263375.1:p.Asn136Lys, XP_011530689.1:p.Asn136Lys

Select item 14838113095.

rs1483811309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:118303805 (GRCh38)
4:119224960 (GRCh37)
Canonical SPDI:: NC_000004.12:118303804:C:A
Gene:: PRSS12 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.118303805C>A, NC_000004.11:g.119224960C>A, NG_023350.1:g.53963G>T, XM_005263318.5:c.*97G>T, XM_005263318.4:c.*97G>T, XM_005263318.3:c.*97G>T, XM_011532387.3:c.1706G>T, XM_011532387.2:c.1706G>T, XM_011532387.1:c.1706G>T, XP_011530689.1:p.Arg569Ile

Select item 14810212456.

rs1481021245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:118352683 (GRCh38)
4:119273838 (GRCh37)
Canonical SPDI:: NC_000004.12:118352682:C:G,NC_000004.12:118352682:C:T
Gene:: PRSS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000004.12:g.118352683C>G, NC_000004.12:g.118352683C>T, NC_000004.11:g.119273838C>G, NC_000004.11:g.119273838C>T, NG_023350.1:g.5085G>C, NG_023350.1:g.5085G>A, NM_003619.4:c.38G>C, NM_003619.4:c.38G>A, NM_003619.3:c.38G>C, NM_003619.3:c.38G>A, XM_005263318.5:c.38G>C, XM_005263318.5:c.38G>A, XM_005263318.4:c.38G>C, XM_005263318.4:c.38G>A, XM_005263318.3:c.38G>C, XM_005263318.3:c.38G>A, XM_005263318.2:c.38G>C, XM_005263318.2:c.38G>A, XM_005263318.1:c.38G>C, XM_005263318.1:c.38G>A, XM_011532387.3:c.38G>C, XM_011532387.3:c.38G>A, XM_011532387.2:c.38G>C, XM_011532387.2:c.38G>A, XM_011532387.1:c.38G>C, XM_011532387.1:c.38G>A, NP_003610.2:p.Gly13Ala, NP_003610.2:p.Gly13Glu, XP_005263375.1:p.Gly13Ala, XP_005263375.1:p.Gly13Glu, XP_011530689.1:p.Gly13Ala, XP_011530689.1:p.Gly13Glu

Select item 14809053767.

rs1480905376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 4:118352245 (GRCh38)
4:119273400 (GRCh37)
Canonical SPDI:: NC_000004.12:118352244:T:A,NC_000004.12:118352244:T:C,NC_000004.12:118352244:T:G
Gene:: PRSS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.00055/1 (Korea1K)
HGVS:: NC_000004.12:g.118352245T>A, NC_000004.12:g.118352245T>C, NC_000004.12:g.118352245T>G, NC_000004.11:g.119273400T>A, NC_000004.11:g.119273400T>C, NC_000004.11:g.119273400T>G, NG_023350.1:g.5523A>T, NG_023350.1:g.5523A>G, NG_023350.1:g.5523A>C, NM_003619.4:c.476A>T, NM_003619.4:c.476A>G, NM_003619.4:c.476A>C, NM_003619.3:c.476A>T, NM_003619.3:c.476A>G, NM_003619.3:c.476A>C, XM_005263318.5:c.476A>T, XM_005263318.5:c.476A>G, XM_005263318.5:c.476A>C, XM_005263318.4:c.476A>T, XM_005263318.4:c.476A>G, XM_005263318.4:c.476A>C, XM_005263318.3:c.476A>T, XM_005263318.3:c.476A>G, XM_005263318.3:c.476A>C, XM_005263318.2:c.476A>T, XM_005263318.2:c.476A>G, XM_005263318.2:c.476A>C, XM_005263318.1:c.476A>T, XM_005263318.1:c.476A>G, XM_005263318.1:c.476A>C, XM_011532387.3:c.476A>T, XM_011532387.3:c.476A>G, XM_011532387.3:c.476A>C, XM_011532387.2:c.476A>T, XM_011532387.2:c.476A>G, XM_011532387.2:c.476A>C, XM_011532387.1:c.476A>T, XM_011532387.1:c.476A>G, XM_011532387.1:c.476A>C, NP_003610.2:p.Asp159Val, NP_003610.2:p.Asp159Gly, NP_003610.2:p.Asp159Ala, XP_005263375.1:p.Asp159Val, XP_005263375.1:p.Asp159Gly, XP_005263375.1:p.Asp159Ala, XP_011530689.1:p.Asp159Val, XP_011530689.1:p.Asp159Gly, XP_011530689.1:p.Asp159Ala

Select item 14804393128.

rs1480439312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:118352441 (GRCh38)
4:119273596 (GRCh37)
Canonical SPDI:: NC_000004.12:118352440:G:T
Gene:: PRSS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
T=0.000035/3 (GnomAD_exomes)
T=0.000042/11 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000004.12:g.118352441G>T, NC_000004.11:g.119273596G>T, NG_023350.1:g.5327C>A, NM_003619.4:c.280C>A, NM_003619.3:c.280C>A, XM_005263318.5:c.280C>A, XM_005263318.4:c.280C>A, XM_005263318.3:c.280C>A, XM_005263318.2:c.280C>A, XM_005263318.1:c.280C>A, XM_011532387.3:c.280C>A, XM_011532387.2:c.280C>A, XM_011532387.1:c.280C>A, NP_003610.2:p.Pro94Thr, XP_005263375.1:p.Pro94Thr, XP_011530689.1:p.Pro94Thr

Select item 14795001449.

rs1479500144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:118318381 (GRCh38)
4:119239536 (GRCh37)
Canonical SPDI:: NC_000004.12:118318380:T:A,NC_000004.12:118318380:T:C
Gene:: PRSS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000106/2 (TOMMO)
HGVS:: NC_000004.12:g.118318381T>A, NC_000004.12:g.118318381T>C, NC_000004.11:g.119239536T>A, NC_000004.11:g.119239536T>C, NG_023350.1:g.39387A>T, NG_023350.1:g.39387A>G, NM_003619.4:c.1147A>T, NM_003619.4:c.1147A>G, NM_003619.3:c.1147A>T, NM_003619.3:c.1147A>G, XM_005263318.5:c.1147A>T, XM_005263318.5:c.1147A>G, XM_005263318.4:c.1147A>T, XM_005263318.4:c.1147A>G, XM_005263318.3:c.1147A>T, XM_005263318.3:c.1147A>G, XM_005263318.2:c.1147A>T, XM_005263318.2:c.1147A>G, XM_005263318.1:c.1147A>T, XM_005263318.1:c.1147A>G, XM_011532387.3:c.1147A>T, XM_011532387.3:c.1147A>G, XM_011532387.2:c.1147A>T, XM_011532387.2:c.1147A>G, XM_011532387.1:c.1147A>T, XM_011532387.1:c.1147A>G, NP_003610.2:p.Thr383Ser, NP_003610.2:p.Thr383Ala, XP_005263375.1:p.Thr383Ser, XP_005263375.1:p.Thr383Ala, XP_011530689.1:p.Thr383Ser, XP_011530689.1:p.Thr383Ala

Select item 147938835710.

rs1479388357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:118352462 (GRCh38)
4:119273617 (GRCh37)
Canonical SPDI:: NC_000004.12:118352461:G:A,NC_000004.12:118352461:G:C
Gene:: PRSS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.118352462G>A, NC_000004.12:g.118352462G>C, NC_000004.11:g.119273617G>A, NC_000004.11:g.119273617G>C, NG_023350.1:g.5306C>T, NG_023350.1:g.5306C>G, NM_003619.4:c.259C>T, NM_003619.4:c.259C>G, NM_003619.3:c.259C>T, NM_003619.3:c.259C>G, XM_005263318.5:c.259C>T, XM_005263318.5:c.259C>G, XM_005263318.4:c.259C>T, XM_005263318.4:c.259C>G, XM_005263318.3:c.259C>T, XM_005263318.3:c.259C>G, XM_005263318.2:c.259C>T, XM_005263318.2:c.259C>G, XM_005263318.1:c.259C>T, XM_005263318.1:c.259C>G, XM_011532387.3:c.259C>T, XM_011532387.3:c.259C>G, XM_011532387.2:c.259C>T, XM_011532387.2:c.259C>G, XM_011532387.1:c.259C>T, XM_011532387.1:c.259C>G, NP_003610.2:p.Arg87Trp, NP_003610.2:p.Arg87Gly, XP_005263375.1:p.Arg87Trp, XP_005263375.1:p.Arg87Gly, XP_011530689.1:p.Arg87Trp, XP_011530689.1:p.Arg87Gly

Select item 147772825811.

rs1477728258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:118352301 (GRCh38)
4:119273456 (GRCh37)
Canonical SPDI:: NC_000004.12:118352300:G:A
Gene:: PRSS12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.118352301G>A, NC_000004.11:g.119273456G>A, NG_023350.1:g.5467C>T, NM_003619.4:c.420C>T, NM_003619.3:c.420C>T, XM_005263318.5:c.420C>T, XM_005263318.4:c.420C>T, XM_005263318.3:c.420C>T, XM_005263318.2:c.420C>T, XM_005263318.1:c.420C>T, XM_011532387.3:c.420C>T, XM_011532387.2:c.420C>T, XM_011532387.1:c.420C>T

Select item 147713957412.

rs1477139574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:118318428 (GRCh38)
4:119239583 (GRCh37)
Canonical SPDI:: NC_000004.12:118318427:T:C
Gene:: PRSS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.118318428T>C, NC_000004.11:g.119239583T>C, NG_023350.1:g.39340A>G, NM_003619.4:c.1100A>G, NM_003619.3:c.1100A>G, XM_005263318.5:c.1100A>G, XM_005263318.4:c.1100A>G, XM_005263318.3:c.1100A>G, XM_005263318.2:c.1100A>G, XM_005263318.1:c.1100A>G, XM_011532387.3:c.1100A>G, XM_011532387.2:c.1100A>G, XM_011532387.1:c.1100A>G, NP_003610.2:p.His367Arg, XP_005263375.1:p.His367Arg, XP_011530689.1:p.His367Arg

Select item 147407805013.

rs1474078050 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCGCGGGGGGCGCGGGAAGCGC [Show Flanks]
Chromosome:: 4:118352505 (GRCh38)
4:119273661 (GRCh37)
Canonical SPDI:: NC_000004.12:118352505:AGCGCCCGCGGGGGGCGCGGGAAGCGC:AGCGCCCGCGGGGGGCGCGGGAAGCGCCCGCGGGGGGCGCGGGAAGCGC
Gene:: PRSS12 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AGCGCCCGCGGGGGGCGCGGGAAGCGCCCGCGGGGGGCGCGGGAAGCGC=0./0 (ALFA)
AGCGCCCGCGGGGGGCGCGGGA=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.118352511_118352532dup, NC_000004.11:g.119273666_119273687dup, NG_023350.1:g.5241_5262dup, NM_003619.4:c.194_215dup, NM_003619.3:c.194_215dup, XM_005263318.5:c.194_215dup, XM_005263318.4:c.194_215dup, XM_005263318.3:c.194_215dup, XM_005263318.2:c.194_215dup, XM_005263318.1:c.194_215dup, XM_011532387.3:c.194_215dup, XM_011532387.2:c.194_215dup, XM_011532387.1:c.194_215dup, NP_003610.2:p.Gln75fs, XP_005263375.1:p.Gln75fs, XP_011530689.1:p.Gln75fs

Select item 147139953514.

rs1471399535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:118352619 (GRCh38)
4:119273774 (GRCh37)
Canonical SPDI:: NC_000004.12:118352618:G:A
Gene:: PRSS12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.118352619G>A, NC_000004.11:g.119273774G>A, NG_023350.1:g.5149C>T, NM_003619.4:c.102C>T, NM_003619.3:c.102C>T, XM_005263318.5:c.102C>T, XM_005263318.4:c.102C>T, XM_005263318.3:c.102C>T, XM_005263318.2:c.102C>T, XM_005263318.1:c.102C>T, XM_011532387.3:c.102C>T, XM_011532387.2:c.102C>T, XM_011532387.1:c.102C>T

Select item 146941321415.

rs1469413214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:118352688 (GRCh38)
4:119273843 (GRCh37)
Canonical SPDI:: NC_000004.12:118352687:C:T
Gene:: PRSS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.118352688C>T, NC_000004.11:g.119273843C>T, NG_023350.1:g.5080G>A, NM_003619.4:c.33G>A, NM_003619.3:c.33G>A, XM_005263318.5:c.33G>A, XM_005263318.4:c.33G>A, XM_005263318.3:c.33G>A, XM_005263318.2:c.33G>A, XM_005263318.1:c.33G>A, XM_011532387.3:c.33G>A, XM_011532387.2:c.33G>A, XM_011532387.1:c.33G>A, NP_003610.2:p.Met11Ile, XP_005263375.1:p.Met11Ile, XP_011530689.1:p.Met11Ile

Select item 146714303016.

rs1467143030 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 4:118352327 (GRCh38)
4:119273482 (GRCh37)
Canonical SPDI:: NC_000004.12:118352324:TCCTC:TC
Gene:: PRSS12 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.118352327_118352329del, NC_000004.11:g.119273482_119273484del, NG_023350.1:g.5441_5443del, NM_003619.4:c.394_396del, NM_003619.3:c.394_396del, XM_005263318.5:c.394_396del, XM_005263318.4:c.394_396del, XM_005263318.3:c.394_396del, XM_005263318.2:c.394_396del, XM_005263318.1:c.394_396del, XM_011532387.3:c.394_396del, XM_011532387.2:c.394_396del, XM_011532387.1:c.394_396del, NP_003610.2:p.Gly132del, XP_005263375.1:p.Gly132del, XP_011530689.1:p.Gly132del

Select item 146654241417.

rs1466542414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:118352579 (GRCh38)
4:119273734 (GRCh37)
Canonical SPDI:: NC_000004.12:118352578:G:T
Gene:: PRSS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.118352579G>T, NC_000004.11:g.119273734G>T, NG_023350.1:g.5189C>A, NM_003619.4:c.142C>A, NM_003619.3:c.142C>A, XM_005263318.5:c.142C>A, XM_005263318.4:c.142C>A, XM_005263318.3:c.142C>A, XM_005263318.2:c.142C>A, XM_005263318.1:c.142C>A, XM_011532387.3:c.142C>A, XM_011532387.2:c.142C>A, XM_011532387.1:c.142C>A, NP_003610.2:p.Pro48Thr, XP_005263375.1:p.Pro48Thr, XP_011530689.1:p.Pro48Thr

Select item 146583062018.

rs1465830620 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:118313345 (GRCh38)
4:119234500 (GRCh37)
Canonical SPDI:: NC_000004.12:118313344:A:T
Gene:: PRSS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.118313345A>T, NC_000004.11:g.119234500A>T, NG_023350.1:g.44423T>A, NM_003619.4:c.1345T>A, NM_003619.3:c.1345T>A, XM_005263318.5:c.1345T>A, XM_005263318.4:c.1345T>A, XM_005263318.3:c.1345T>A, XM_005263318.2:c.1345T>A, XM_005263318.1:c.1345T>A, XM_011532387.3:c.1345T>A, XM_011532387.2:c.1345T>A, XM_011532387.1:c.1345T>A, NP_003610.2:p.Trp449Arg, XP_005263375.1:p.Trp449Arg, XP_011530689.1:p.Trp449Arg

Select item 146480141919.

rs1464801419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:118352687 (GRCh38)
4:119273842 (GRCh37)
Canonical SPDI:: NC_000004.12:118352686:A:C
Gene:: PRSS12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000004.12:g.118352687A>C, NC_000004.11:g.119273842A>C, NG_023350.1:g.5081T>G, NM_003619.4:c.34T>G, NM_003619.3:c.34T>G, XM_005263318.5:c.34T>G, XM_005263318.4:c.34T>G, XM_005263318.3:c.34T>G, XM_005263318.2:c.34T>G, XM_005263318.1:c.34T>G, XM_011532387.3:c.34T>G, XM_011532387.2:c.34T>G, XM_011532387.1:c.34T>G, NP_003610.2:p.Leu12Val, XP_005263375.1:p.Leu12Val, XP_011530689.1:p.Leu12Val

Select item 146453706920.

rs1464537069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:118331805 (GRCh38)
4:119252960 (GRCh37)
Canonical SPDI:: NC_000004.12:118331804:C:G,NC_000004.12:118331804:C:T
Gene:: PRSS12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.118331805C>G, NC_000004.12:g.118331805C>T, NC_000004.11:g.119252960C>G, NC_000004.11:g.119252960C>T, NG_023350.1:g.25963G>C, NG_023350.1:g.25963G>A, NM_003619.4:c.882G>C, NM_003619.4:c.882G>A, NM_003619.3:c.882G>C, NM_003619.3:c.882G>A, XM_005263318.5:c.882G>C, XM_005263318.5:c.882G>A, XM_005263318.4:c.882G>C, XM_005263318.4:c.882G>A, XM_005263318.3:c.882G>C, XM_005263318.3:c.882G>A, XM_005263318.2:c.882G>C, XM_005263318.2:c.882G>A, XM_005263318.1:c.882G>C, XM_005263318.1:c.882G>A, XM_011532387.3:c.882G>C, XM_011532387.3:c.882G>A, XM_011532387.2:c.882G>C, XM_011532387.2:c.882G>A, XM_011532387.1:c.882G>C, XM_011532387.1:c.882G>A, NP_003610.2:p.Glu294Asp, XP_005263375.1:p.Glu294Asp, XP_011530689.1:p.Glu294Asp

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