Linked Data
ClinVar Variation Id:
1984899
ClinVar RCV Id:
RCV002775735
dbSNP Id:
rs766274211
ExAC:
2:71838664 G / A
gnomAD v2:
2-71838664-G-A
gnomAD v3:
2-71611534-G-A
gnomAD v4:
2-71611534-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71611534G>A , CM000664.2:g.71611534G>A | GRCh38 |
| NC_000002.11:g.71838664G>A , CM000664.1:g.71838664G>A | GRCh37 |
| NC_000002.10:g.71692172G>A | NCBI36 |
| NG_008694.1:g.162912G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.1543G>A | ENSP00000513536.1:p.Val515Ile | |
| ENST00000698058.1:c.760G>A | ENSP00000513537.1:p.Val254Ile | |
| ENST00000698059.1:c.718G>A | ENSP00000513538.1:p.Val240Ile | |
| ENST00000258104.8:c.4075G>A MANE Plus Clinical | ENSP00000258104.3:p.Val1359Ile | |
| ENST00000410020.8:c.4129G>A MANE Select | ENSP00000386881.3:p.Val1377Ile | |
| ENST00000258104.7:c.4075G>A | ENSP00000258104.3:p.Val1359Ile | |
| ENST00000394120.6:c.4078G>A | ENSP00000377678.2:p.Val1360Ile | |
| ENST00000409366.5:c.4078G>A | ENSP00000386512.1:p.Val1360Ile | |
| ENST00000409582.7:c.4126G>A | ENSP00000386547.3:p.Val1376Ile | |
| ENST00000409651.5:c.4171G>A | ENSP00000386683.1:p.Val1391Ile | |
| ENST00000409744.5:c.4036G>A | ENSP00000386285.1:p.Val1346Ile | |
| ENST00000409762.5:c.4126G>A | ENSP00000387137.1:p.Val1376Ile | |
| ENST00000410020.7:c.4129G>A | ENSP00000386881.3:p.Val1377Ile | |
| ENST00000410041.1:c.4129G>A | ENSP00000386617.1:p.Val1377Ile | |
| ENST00000413539.6:c.4168G>A | ENSP00000407046.2:p.Val1390Ile | |
| ENST00000429174.6:c.4075G>A | ENSP00000398305.2:p.Val1359Ile | |
| ENST00000468173.1:n.311G>A | ||
| ENST00000472873.5:n.459G>A | ||
| ENST00000479049.6:n.960G>A | ||
| ENST00000487180.5:n.294G>A | ||
| ENST00000494501.5:n.373G>A | ||
| NM_001130455.1:c.4078G>A | NP_001123927.1:p.Val1360Ile | |
| NM_001130976.1:c.4033G>A | NP_001124448.1:p.Val1345Ile | |
| NM_001130977.1:c.4033G>A | NP_001124449.1:p.Val1345Ile | |
| NM_001130978.1:c.4075G>A | NP_001124450.1:p.Val1359Ile | |
| NM_001130979.1:c.4168G>A | NP_001124451.1:p.Val1390Ile | |
| NM_001130980.1:c.4126G>A | NP_001124452.1:p.Val1376Ile | |
| NM_001130981.1:c.4126G>A | NP_001124453.1:p.Val1376Ile | |
| NM_001130982.1:c.4171G>A | NP_001124454.1:p.Val1391Ile | |
| NM_001130983.1:c.4078G>A | NP_001124455.1:p.Val1360Ile | |
| NM_001130984.1:c.4036G>A | NP_001124456.1:p.Val1346Ile | |
| NM_001130985.1:c.4129G>A | NP_001124457.1:p.Val1377Ile | |
| NM_001130986.1:c.4036G>A | NP_001124458.1:p.Val1346Ile | |
| NM_001130987.1:c.4129G>A | NP_001124459.1:p.Val1377Ile | |
| NM_003494.3:c.4075G>A | NP_003485.1:p.Val1359Ile | |
| XM_005264584.3:c.4171G>A | XP_005264641.1:p.Val1391Ile | |
| XM_005264585.3:c.4168G>A | XP_005264642.1:p.Val1390Ile | |
| XM_005264584.4:c.4171G>A | XP_005264641.1:p.Val1391Ile | |
| XM_005264585.5:c.4168G>A | XP_005264642.1:p.Val1390Ile | |
| XR_001738969.1:n.4329G>A | ||
| NM_001130987.2:c.4129G>A MANE Select | NP_001124459.1:p.Val1377Ile | |
| NM_001130455.2:c.4078G>A | NP_001123927.1:p.Val1360Ile | |
| NM_001130976.2:c.4033G>A | NP_001124448.1:p.Val1345Ile | |
| NM_001130977.2:c.4033G>A | NP_001124449.1:p.Val1345Ile | |
| NM_001130978.2:c.4075G>A | NP_001124450.1:p.Val1359Ile | |
| NM_001130979.2:c.4168G>A | NP_001124451.1:p.Val1390Ile | |
| NM_001130980.2:c.4126G>A | NP_001124452.1:p.Val1376Ile | |
| NM_001130981.2:c.4126G>A | NP_001124453.1:p.Val1376Ile | |
| NM_001130982.2:c.4171G>A | NP_001124454.1:p.Val1391Ile | |
| NM_001130983.2:c.4078G>A | NP_001124455.1:p.Val1360Ile | |
| NM_001130984.2:c.4036G>A | NP_001124456.1:p.Val1346Ile | |
| NM_001130985.2:c.4129G>A | NP_001124457.1:p.Val1377Ile | |
| NM_001130986.2:c.4036G>A | NP_001124458.1:p.Val1346Ile | |
| NM_003494.4:c.4075G>A MANE Plus Clinical | NP_003485.1:p.Val1359Ile |