SNP Links for Protein (Select 578828549) - SNP

Links from Protein

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Select item 14905227171.

rs1490522717 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30496113 (GRCh38)
16:30507434 (GRCh37)
Canonical SPDI:: NC_000016.10:30496112:T:C
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.0007/2 (KOREAN)
HGVS:: NC_000016.10:g.30496113T>C, NC_000016.9:g.30507434T>C, NM_002209.3:c.1520T>C, NM_002209.2:c.1520T>C, XM_006721044.2:c.1271T>C, XM_006721044.1:c.1271T>C, NM_001114380.2:c.1271T>C, NM_001114380.1:c.1271T>C, XR_950794.2:n.1616T>C, XR_950794.1:n.1616T>C, XM_005255313.1:c.1520T>C, XM_047434073.1:c.536T>C, XM_047434072.1:c.536T>C, NP_002200.2:p.Val507Ala, XP_006721107.1:p.Val424Ala, NP_001107852.1:p.Val424Ala, XP_005255370.1:p.Val507Ala, XP_047290029.1:p.Val179Ala, XP_047290028.1:p.Val179Ala

Select item 14904538022.

rs1490453802 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30505448 (GRCh38)
16:30516769 (GRCh37)
Canonical SPDI:: NC_000016.10:30505447:C:T
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30505448C>T, NC_000016.9:g.30516769C>T, NM_002209.3:c.2352C>T, NM_002209.2:c.2352C>T, XM_006721044.2:c.2103C>T, XM_006721044.1:c.2103C>T, NM_001114380.2:c.2100C>T, NM_001114380.1:c.2100C>T, XM_005255313.1:c.2349C>T, XM_047434073.1:c.1365C>T, XM_047434072.1:c.1368C>T

Select item 14869549683.

rs1486954968 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:30517695 (GRCh38)
16:30529016 (GRCh37)
Canonical SPDI:: NC_000016.10:30517694:A:G,NC_000016.10:30517694:A:T
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_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)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30517695A>G, NC_000016.10:g.30517695A>T, NC_000016.9:g.30529016A>G, NC_000016.9:g.30529016A>T, NM_002209.3:c.3023A>G, NM_002209.3:c.3023A>T, NM_002209.2:c.3023A>G, NM_002209.2:c.3023A>T, XM_006721044.2:c.2774A>G, XM_006721044.2:c.2774A>T, XM_006721044.1:c.2774A>G, XM_006721044.1:c.2774A>T, NM_001114380.2:c.2771A>G, NM_001114380.2:c.2771A>T, NM_001114380.1:c.2771A>G, NM_001114380.1:c.2771A>T, XM_005255313.1:c.3020A>G, XM_005255313.1:c.3020A>T, XM_047434073.1:c.2036A>G, XM_047434073.1:c.2036A>T, XM_047434072.1:c.2039A>G, XM_047434072.1:c.2039A>T, NP_002200.2:p.Asp1008Gly, NP_002200.2:p.Asp1008Val, XP_006721107.1:p.Asp925Gly, XP_006721107.1:p.Asp925Val, NP_001107852.1:p.Asp924Gly, NP_001107852.1:p.Asp924Val, XP_005255370.1:p.Asp1007Gly, XP_005255370.1:p.Asp1007Val, XP_047290029.1:p.Asp679Gly, XP_047290029.1:p.Asp679Val, XP_047290028.1:p.Asp680Gly, XP_047290028.1:p.Asp680Val

Select item 14868287084.

rs1486828708 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30499196 (GRCh38)
16:30510517 (GRCh37)
Canonical SPDI:: NC_000016.10:30499195:T:C
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30499196T>C, NC_000016.9:g.30510517T>C, NM_002209.3:c.1955T>C, NM_002209.2:c.1955T>C, XM_006721044.2:c.1706T>C, XM_006721044.1:c.1706T>C, NM_001114380.2:c.1706T>C, NM_001114380.1:c.1706T>C, XR_950794.2:n.2051T>C, XR_950794.1:n.2051T>C, XM_005255313.1:c.1955T>C, XM_047434073.1:c.971T>C, XM_047434072.1:c.971T>C, NP_002200.2:p.Ile652Thr, XP_006721107.1:p.Ile569Thr, NP_001107852.1:p.Ile569Thr, XP_005255370.1:p.Ile652Thr, XP_047290029.1:p.Ile324Thr, XP_047290028.1:p.Ile324Thr

Select item 14865535515.

rs1486553551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30494821 (GRCh38)
16:30506142 (GRCh37)
Canonical SPDI:: NC_000016.10:30494820:G:A
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30494821G>A, NC_000016.9:g.30506142G>A, NM_002209.3:c.1474G>A, NM_002209.2:c.1474G>A, XM_006721044.2:c.1225G>A, XM_006721044.1:c.1225G>A, NM_001114380.2:c.1225G>A, NM_001114380.1:c.1225G>A, XR_950794.2:n.1570G>A, XR_950794.1:n.1570G>A, XM_005255313.1:c.1474G>A, XM_047434073.1:c.490G>A, XM_047434072.1:c.490G>A, NP_002200.2:p.Gly492Ser, XP_006721107.1:p.Gly409Ser, NP_001107852.1:p.Gly409Ser, XP_005255370.1:p.Gly492Ser, XP_047290029.1:p.Gly164Ser, XP_047290028.1:p.Gly164Ser

Select item 14846841746.

rs1484684174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30510399 (GRCh38)
16:30521720 (GRCh37)
Canonical SPDI:: NC_000016.10:30510398:T:C
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00002/5 (GnomAD_exomes)
C=0.000029/4 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000016.10:g.30510399T>C, NC_000016.9:g.30521720T>C, NM_002209.3:c.2547T>C, NM_002209.2:c.2547T>C, XM_006721044.2:c.2298T>C, XM_006721044.1:c.2298T>C, NM_001114380.2:c.2295T>C, NM_001114380.1:c.2295T>C, XM_005255313.1:c.2544T>C, XM_047434073.1:c.1560T>C, XM_047434072.1:c.1563T>C

Select item 14834336757.

rs1483433675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:30499476 (GRCh38)
16:30510797 (GRCh37)
Canonical SPDI:: NC_000016.10:30499475:C:A
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30499476C>A, NC_000016.9:g.30510797C>A, NM_002209.3:c.2132C>A, NM_002209.2:c.2132C>A, XM_006721044.2:c.1883C>A, XM_006721044.1:c.1883C>A, NM_001114380.2:c.1883C>A, NM_001114380.1:c.1883C>A, XR_950794.2:n.2193C>A, XR_950794.1:n.2193C>A, XM_005255313.1:c.2132C>A, XM_047434073.1:c.1148C>A, XM_047434072.1:c.1148C>A, NP_002200.2:p.Ser711Ter, XP_006721107.1:p.Ser628Ter, NP_001107852.1:p.Ser628Ter, XP_005255370.1:p.Ser711Ter, XP_047290029.1:p.Ser383Ter, XP_047290028.1:p.Ser383Ter

Select item 14833870758.

rs1483387075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:30506755 (GRCh38)
16:30518076 (GRCh37)
Canonical SPDI:: NC_000016.10:30506754:G:T
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30506755G>T, NC_000016.9:g.30518076G>T, NM_002209.3:c.2407G>T, NM_002209.2:c.2407G>T, XM_006721044.2:c.2158G>T, XM_006721044.1:c.2158G>T, NM_001114380.2:c.2155G>T, NM_001114380.1:c.2155G>T, XM_005255313.1:c.2404G>T, XM_047434073.1:c.1420G>T, XM_047434072.1:c.1423G>T, NP_002200.2:p.Val803Leu, XP_006721107.1:p.Val720Leu, NP_001107852.1:p.Val719Leu, XP_005255370.1:p.Val802Leu, XP_047290029.1:p.Val474Leu, XP_047290028.1:p.Val475Leu

Select item 14822771849.

rs1482277184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30481442 (GRCh38)
16:30492763 (GRCh37)
Canonical SPDI:: NC_000016.10:30481441:G:A
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.30481442G>A, NC_000016.9:g.30492763G>A, NM_002209.3:c.580G>A, NM_002209.2:c.580G>A, XM_006721044.2:c.331G>A, XM_006721044.1:c.331G>A, NM_001114380.2:c.331G>A, NM_001114380.1:c.331G>A, XR_950794.2:n.676G>A, XR_950794.1:n.676G>A, XM_005255313.1:c.580G>A, NP_002200.2:p.Ala194Thr, XP_006721107.1:p.Ala111Thr, NP_001107852.1:p.Ala111Thr, XP_005255370.1:p.Ala194Thr

Select item 148159724910.

rs1481597249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:30475557 (GRCh38)
16:30486878 (GRCh37)
Canonical SPDI:: NC_000016.10:30475556:G:C
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30475557G>C, NC_000016.9:g.30486878G>C, NM_002209.3:c.304G>C, NM_002209.2:c.304G>C, XM_006721044.2:c.304G>C, XM_006721044.1:c.304G>C, NM_001114380.2:c.304G>C, NM_001114380.1:c.304G>C, XR_950794.2:n.400G>C, XR_950794.1:n.400G>C, XM_005255313.1:c.304G>C, NP_002200.2:p.Asp102His, XP_006721107.1:p.Asp102His, NP_001107852.1:p.Asp102His, XP_005255370.1:p.Asp102His

Select item 148110348711.

rs1481103487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30496173 (GRCh38)
16:30507494 (GRCh37)
Canonical SPDI:: NC_000016.10:30496172:C:T
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30496173C>T, NC_000016.9:g.30507494C>T, NM_002209.3:c.1580C>T, NM_002209.2:c.1580C>T, XM_006721044.2:c.1331C>T, XM_006721044.1:c.1331C>T, NM_001114380.2:c.1331C>T, NM_001114380.1:c.1331C>T, XR_950794.2:n.1676C>T, XR_950794.1:n.1676C>T, XM_005255313.1:c.1580C>T, XM_047434073.1:c.596C>T, XM_047434072.1:c.596C>T, NP_002200.2:p.Ala527Val, XP_006721107.1:p.Ala444Val, NP_001107852.1:p.Ala444Val, XP_005255370.1:p.Ala527Val, XP_047290029.1:p.Ala199Val, XP_047290028.1:p.Ala199Val

Select item 147808854212.

rs1478088542 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30484207 (GRCh38)
16:30495528 (GRCh37)
Canonical SPDI:: NC_000016.10:30484206:T:C
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30484207T>C, NC_000016.9:g.30495528T>C, NM_002209.3:c.950T>C, NM_002209.2:c.950T>C, XM_006721044.2:c.701T>C, XM_006721044.1:c.701T>C, NM_001114380.2:c.701T>C, NM_001114380.1:c.701T>C, XR_950794.2:n.1046T>C, XR_950794.1:n.1046T>C, XM_005255313.1:c.950T>C, NP_002200.2:p.Phe317Ser, XP_006721107.1:p.Phe234Ser, NP_001107852.1:p.Phe234Ser, XP_005255370.1:p.Phe317Ser

Select item 147666708213.

rs1476667082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30519880 (GRCh38)
16:30531201 (GRCh37)
Canonical SPDI:: NC_000016.10:30519879:G:A
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30519880G>A, NC_000016.9:g.30531201G>A, NM_002209.3:c.3252G>A, NM_002209.2:c.3252G>A, XM_006721044.2:c.3003G>A, XM_006721044.1:c.3003G>A, NM_001114380.2:c.3000G>A, NM_001114380.1:c.3000G>A, XM_005255313.1:c.3249G>A, XM_047434073.1:c.2265G>A, XM_047434072.1:c.2268G>A

Select item 147542794514.

rs1475427945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30513840 (GRCh38)
16:30525161 (GRCh37)
Canonical SPDI:: NC_000016.10:30513839:G:A
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30513840G>A, NC_000016.9:g.30525161G>A, NM_002209.3:c.2856G>A, NM_002209.2:c.2856G>A, XM_006721044.2:c.2607G>A, XM_006721044.1:c.2607G>A, NM_001114380.2:c.2604G>A, NM_001114380.1:c.2604G>A, XM_005255313.1:c.2853G>A, XM_047434073.1:c.1869G>A, XM_047434072.1:c.1872G>A, NP_002200.2:p.Met952Ile, XP_006721107.1:p.Met869Ile, NP_001107852.1:p.Met868Ile, XP_005255370.1:p.Met951Ile, XP_047290029.1:p.Met623Ile, XP_047290028.1:p.Met624Ile

Select item 147388528915.

rs1473885289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:30510422 (GRCh38)
16:30521743 (GRCh37)
Canonical SPDI:: NC_000016.10:30510421:G:C
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30510422G>C, NC_000016.9:g.30521743G>C, NM_002209.3:c.2570G>C, NM_002209.2:c.2570G>C, XM_006721044.2:c.2321G>C, XM_006721044.1:c.2321G>C, NM_001114380.2:c.2318G>C, NM_001114380.1:c.2318G>C, XM_005255313.1:c.2567G>C, XM_047434073.1:c.1583G>C, XM_047434072.1:c.1586G>C, NP_002200.2:p.Arg857Thr, XP_006721107.1:p.Arg774Thr, NP_001107852.1:p.Arg773Thr, XP_005255370.1:p.Arg856Thr, XP_047290029.1:p.Arg528Thr, XP_047290028.1:p.Arg529Thr

Select item 147292306516.

rs1472923065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30499369 (GRCh38)
16:30510690 (GRCh37)
Canonical SPDI:: NC_000016.10:30499368:G:A
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30499369G>A, NC_000016.9:g.30510690G>A, NM_002209.3:c.2025G>A, NM_002209.2:c.2025G>A, XM_006721044.2:c.1776G>A, XM_006721044.1:c.1776G>A, NM_001114380.2:c.1776G>A, NM_001114380.1:c.1776G>A, XM_005255313.1:c.2025G>A, XM_047434073.1:c.1041G>A, XM_047434072.1:c.1041G>A

Select item 147193703617.

rs1471937036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:30518678 (GRCh38)
16:30529999 (GRCh37)
Canonical SPDI:: NC_000016.10:30518677:A:C
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30518678A>C, NC_000016.9:g.30529999A>C, NM_002209.3:c.3187A>C, NM_002209.2:c.3187A>C, XM_006721044.2:c.2938A>C, XM_006721044.1:c.2938A>C, NM_001114380.2:c.2935A>C, NM_001114380.1:c.2935A>C, XM_005255313.1:c.3184A>C, XM_047434073.1:c.2200A>C, XM_047434072.1:c.2203A>C, NP_002200.2:p.Lys1063Gln, XP_006721107.1:p.Lys980Gln, NP_001107852.1:p.Lys979Gln, XP_005255370.1:p.Lys1062Gln, XP_047290029.1:p.Lys734Gln, XP_047290028.1:p.Lys735Gln

Select item 147166051018.

rs1471660510 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30496188 (GRCh38)
16:30507509 (GRCh37)
Canonical SPDI:: NC_000016.10:30496187:A:G
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.30496188A>G, NC_000016.9:g.30507509A>G, NM_002209.3:c.1595A>G, NM_002209.2:c.1595A>G, XM_006721044.2:c.1346A>G, XM_006721044.1:c.1346A>G, NM_001114380.2:c.1346A>G, NM_001114380.1:c.1346A>G, XR_950794.2:n.1691A>G, XR_950794.1:n.1691A>G, XM_005255313.1:c.1595A>G, XM_047434073.1:c.611A>G, XM_047434072.1:c.611A>G, NP_002200.2:p.Asn532Ser, XP_006721107.1:p.Asn449Ser, NP_001107852.1:p.Asn449Ser, XP_005255370.1:p.Asn532Ser, XP_047290029.1:p.Asn204Ser, XP_047290028.1:p.Asn204Ser

Select item 147153557019.

rs1471535570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30496482 (GRCh38)
16:30507803 (GRCh37)
Canonical SPDI:: NC_000016.10:30496481:G:A
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30496482G>A, NC_000016.9:g.30507803G>A, NM_002209.3:c.1748G>A, NM_002209.2:c.1748G>A, XM_006721044.2:c.1499G>A, XM_006721044.1:c.1499G>A, NM_001114380.2:c.1499G>A, NM_001114380.1:c.1499G>A, XR_950794.2:n.1844G>A, XR_950794.1:n.1844G>A, XM_005255313.1:c.1748G>A, XM_047434073.1:c.764G>A, XM_047434072.1:c.764G>A, NP_002200.2:p.Arg583His, XP_006721107.1:p.Arg500His, NP_001107852.1:p.Arg500His, XP_005255370.1:p.Arg583His, XP_047290029.1:p.Arg255His, XP_047290028.1:p.Arg255His

Select item 147148649320.

rs1471486493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30504175 (GRCh38)
16:30515496 (GRCh37)
Canonical SPDI:: NC_000016.10:30504174:G:A
Gene:: ITGAL (Varview), MIR4518 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30504175G>A, NC_000016.9:g.30515496G>A, NM_002209.3:c.2146G>A, NM_002209.2:c.2146G>A, XM_006721044.2:c.1897G>A, XM_006721044.1:c.1897G>A, NM_001114380.2:c.1897G>A, NM_001114380.1:c.1897G>A, XR_950794.2:n.2207G>A, XR_950794.1:n.2207G>A, XM_005255313.1:c.2146G>A, XM_047434073.1:c.1162G>A, XM_047434072.1:c.1162G>A, NP_002200.2:p.Val716Ile, XP_006721107.1:p.Val633Ile, NP_001107852.1:p.Val633Ile, XP_005255370.1:p.Val716Ile, XP_047290029.1:p.Val388Ile, XP_047290028.1:p.Val388Ile

dbSNP

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