Linked Data
ClinVar Variation Id:
94332
dbSNP Id:
rs147056383
ExAC:
2:71887771 G / A
gnomAD v2:
2-71887771-G-A
gnomAD v3:
2-71660641-G-A
gnomAD v4:
2-71660641-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71660641G>A , CM000664.2:g.71660641G>A | GRCh38 |
| NC_000002.11:g.71887771G>A , CM000664.1:g.71887771G>A | GRCh37 |
| NC_000002.10:g.71741279G>A | NCBI36 |
| NG_008694.1:g.212019G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2407G>A | ENSP00000513536.1:p.Val803Ile | |
| ENST00000698058.1:c.1624G>A | ENSP00000513537.1:p.Val542Ile | |
| ENST00000698059.1:c.1732G>A | ENSP00000513538.1:p.Val578Ile | |
| ENST00000258104.8:c.4876G>A MANE Plus Clinical | ENSP00000258104.3:p.Val1626Ile | |
| ENST00000410020.8:c.4993G>A MANE Select | ENSP00000386881.3:p.Val1665Ile | |
| ENST00000258104.7:c.4876G>A | ENSP00000258104.3:p.Val1626Ile | |
| ENST00000394120.6:c.4879G>A | ENSP00000377678.2:p.Val1627Ile | |
| ENST00000409366.5:c.4942G>A | ENSP00000386512.1:p.Val1648Ile | |
| ENST00000409582.7:c.4990G>A | ENSP00000386547.3:p.Val1664Ile | |
| ENST00000409651.5:c.4972G>A | ENSP00000386683.1:p.Val1658Ile | |
| ENST00000409744.5:c.4900G>A | ENSP00000386285.1:p.Val1634Ile | |
| ENST00000409762.5:c.4927G>A | ENSP00000387137.1:p.Val1643Ile | |
| ENST00000410020.7:c.4993G>A | ENSP00000386881.3:p.Val1665Ile | |
| ENST00000410041.1:c.4930G>A | ENSP00000386617.1:p.Val1644Ile | |
| ENST00000413539.6:c.4969G>A | ENSP00000407046.2:p.Val1657Ile | |
| ENST00000429174.6:c.4939G>A | ENSP00000398305.2:p.Val1647Ile | |
| ENST00000479049.6:n.1761G>A | ||
| NM_001130455.1:c.4879G>A | NP_001123927.1:p.Val1627Ile | |
| NM_001130976.1:c.4834G>A | NP_001124448.1:p.Val1612Ile | |
| NM_001130977.1:c.4897G>A | NP_001124449.1:p.Val1633Ile | |
| NM_001130978.1:c.4939G>A | NP_001124450.1:p.Val1647Ile | |
| NM_001130979.1:c.4969G>A | NP_001124451.1:p.Val1657Ile | |
| NM_001130980.1:c.4927G>A | NP_001124452.1:p.Val1643Ile | |
| NM_001130981.1:c.4990G>A | NP_001124453.1:p.Val1664Ile | |
| NM_001130982.1:c.4972G>A | NP_001124454.1:p.Val1658Ile | |
| NM_001130983.1:c.4942G>A | NP_001124455.1:p.Val1648Ile | |
| NM_001130984.1:c.4900G>A | NP_001124456.1:p.Val1634Ile | |
| NM_001130985.1:c.4930G>A | NP_001124457.1:p.Val1644Ile | |
| NM_001130986.1:c.4837G>A | NP_001124458.1:p.Val1613Ile | |
| NM_001130987.1:c.4993G>A | NP_001124459.1:p.Val1665Ile | |
| NM_003494.3:c.4876G>A | NP_003485.1:p.Val1626Ile | |
| XM_005264584.3:c.5035G>A | XP_005264641.1:p.Val1679Ile | |
| XM_005264585.3:c.5032G>A | XP_005264642.1:p.Val1678Ile | |
| XM_005264584.4:c.5035G>A | XP_005264641.1:p.Val1679Ile | |
| XM_005264585.5:c.5032G>A | XP_005264642.1:p.Val1678Ile | |
| XR_001738969.1:n.5193G>A | ||
| NM_001130987.2:c.4993G>A MANE Select | NP_001124459.1:p.Val1665Ile | |
| NM_001130455.2:c.4879G>A | NP_001123927.1:p.Val1627Ile | |
| NM_001130976.2:c.4834G>A | NP_001124448.1:p.Val1612Ile | |
| NM_001130977.2:c.4897G>A | NP_001124449.1:p.Val1633Ile | |
| NM_001130978.2:c.4939G>A | NP_001124450.1:p.Val1647Ile | |
| NM_001130979.2:c.4969G>A | NP_001124451.1:p.Val1657Ile | |
| NM_001130980.2:c.4927G>A | NP_001124452.1:p.Val1643Ile | |
| NM_001130981.2:c.4990G>A | NP_001124453.1:p.Val1664Ile | |
| NM_001130982.2:c.4972G>A | NP_001124454.1:p.Val1658Ile | |
| NM_001130983.2:c.4942G>A | NP_001124455.1:p.Val1648Ile | |
| NM_001130984.2:c.4900G>A | NP_001124456.1:p.Val1634Ile | |
| NM_001130985.2:c.4930G>A | NP_001124457.1:p.Val1644Ile | |
| NM_001130986.2:c.4837G>A | NP_001124458.1:p.Val1613Ile | |
| NM_003494.4:c.4876G>A MANE Plus Clinical | NP_003485.1:p.Val1626Ile |