Linked Data
ClinVar Variation Id:
362373
dbSNP Id:
rs17636067
ExAC:
8:17915126 C / T
gnomAD v2:
8-17915126-C-T
gnomAD v3:
8-18057617-C-T
gnomAD v4:
8-18057617-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18057617C>T , CM000670.2:g.18057617C>T | GRCh38 |
| NC_000008.10:g.17915126C>T , CM000670.1:g.17915126C>T | GRCh37 |
| NC_000008.9:g.17959406C>T | NCBI36 |
| NG_008985.1:g.32382G>A | |
| NG_008985.2:g.32382G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.1153G>A | ENSP00000371152.4:p.Val385Ile | |
| ENST00000518746.2:n.2791G>A | ||
| ENST00000520781.6:c.1030G>A | ENSP00000427751.1:p.Val344Ile | |
| ENST00000635756.1:c.518G>A | ||
| ENST00000635944.1:c.*941G>A | ENSP00000490195.1:n.*941G>A | |
| ENST00000635998.1:c.1105G>A | ENSP00000490506.1:p.Val369Ile | |
| ENST00000636009.1:c.962G>A | ENSP00000489988.1:n.962G>A | |
| ENST00000636033.1:c.*941G>A | ENSP00000489617.1:n.*941G>A | |
| ENST00000636050.1:c.*948G>A | ENSP00000490562.1:n.*948G>A | |
| ENST00000636128.1:c.784G>A | ENSP00000489789.1:p.Val262Ile | |
| ENST00000636160.1:c.*997G>A | ENSP00000489651.1:n.*997G>A | |
| ENST00000636171.1:c.1048G>A | ENSP00000489761.1:p.Val350Ile | |
| ENST00000636455.1:c.*3G>A | ENSP00000490502.1:n.*3G>A | |
| ENST00000636494.1:c.*885G>A | ENSP00000490388.1:n.*885G>A | |
| ENST00000636563.1:n.767G>A | ||
| ENST00000636577.1:c.1045G>A | ENSP00000490027.1:p.Val349Ile | |
| ENST00000636691.1:c.910G>A | ENSP00000490725.1:p.Val304Ile | |
| ENST00000636701.1:c.*756G>A | ENSP00000489800.1:n.*756G>A | |
| ENST00000636815.1:c.1022G>A | ||
| ENST00000636920.1:c.*941G>A | ENSP00000490437.1:n.*941G>A | |
| ENST00000636997.1:c.1018G>A | ENSP00000490093.1:p.Val340Ile | |
| ENST00000637013.1:c.*1473G>A | ENSP00000490596.1:n.*1473G>A | |
| ENST00000637014.1:n.1512G>A | ||
| ENST00000637095.1:c.*885G>A | ENSP00000490415.1:n.*885G>A | |
| ENST00000637244.1:c.*1623G>A | ENSP00000490188.1:n.*1623G>A | |
| ENST00000637343.1:n.2542G>A | ||
| ENST00000637429.1:c.*1317G>A | ENSP00000490522.1:n.*1317G>A | |
| ENST00000637484.1:c.*1067G>A | ENSP00000490837.1:n.*1067G>A | |
| ENST00000637528.1:c.1042G>A | ENSP00000490801.1:p.Val348Ile | |
| ENST00000637609.1:n.3826G>A | ||
| ENST00000637636.1:c.1099G>A | ENSP00000490112.1:p.Val367Ile | |
| ENST00000637752.1:n.1547G>A | ||
| ENST00000637790.2:c.1105G>A MANE Select | ENSP00000490272.1:p.Val369Ile | |
| ENST00000637857.1:n.1471G>A | ||
| ENST00000637922.1:c.910G>A | ENSP00000490071.1:p.Val304Ile | |
| ENST00000637991.1:c.1078G>A | ENSP00000489901.1:p.Val360Ile | |
| ENST00000638028.1:n.1322G>A | ||
| ENST00000638069.1:n.1926G>A | ||
| ENST00000262097.10:c.1105G>A | ENSP00000262097.6:p.Val369Ile | |
| ENST00000314146.10:c.1087G>A | ENSP00000326970.10:p.Val363Ile | |
| ENST00000381733.8:c.1153G>A | ENSP00000371152.4:p.Val385Ile | |
| ENST00000520781.5:c.1030G>A | ENSP00000427751.1:p.Val344Ile | |
| NM_001127505.1:c.1087G>A | NP_001120977.1:p.Val363Ile | |
| NM_001127505.2:c.1087G>A | NP_001120977.1:p.Val363Ile | |
| NM_004315.4:c.1153G>A | NP_004306.3:p.Val385Ile | |
| NM_004315.5:c.1153G>A | NP_004306.3:p.Val385Ile | |
| NM_177924.3:c.1105G>A | NP_808592.2:p.Val369Ile | |
| NM_177924.4:c.1105G>A | NP_808592.2:p.Val369Ile | |
| XM_005273504.2:c.1039G>A | XP_005273561.1:p.Val347Ile | |
| NM_001363743.1:c.910G>A | NP_001350672.1:p.Val304Ile | |
| XM_005273504.3:c.1039G>A | XP_005273561.1:p.Val347Ile | |
| NM_177924.5:c.1105G>A MANE Select | NP_808592.2:p.Val369Ile | |
| NM_001127505.3:c.1087G>A | NP_001120977.1:p.Val363Ile | |
| NM_001363743.2:c.910G>A | NP_001350672.1:p.Val304Ile | |
| NM_004315.6:c.1153G>A | NP_004306.3:p.Val385Ile |