Linked Data
ClinVar Variation Id:
730191
ClinVar RCV Id:
RCV001406438
dbSNP Id:
rs764945119
ExAC:
8:145740407 G / A
gnomAD v2:
8-145740407-G-A
gnomAD v4:
8-144515023-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144515023G>A , CM000670.2:g.144515023G>A | GRCh38 |
| NC_000008.10:g.145740407G>A , CM000670.1:g.145740407G>A | GRCh37 |
| NC_000008.9:g.145711215G>A | NCBI36 |
| NG_016430.1:g.7804C>T | |
| NG_033083.1:g.2059G>A | |
| NG_016430.2:g.7804C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688394.1:n.556C>T | ||
| ENST00000617875.6:c.1533C>T MANE Select | ENSP00000482313.2:p.Cys511= | |
| ENST00000532846.2:c.388C>T | ||
| ENST00000617875.4:c.1533C>T | ENSP00000482313.1:p.Cys511= | |
| ENST00000621189.4:c.462C>T | ENSP00000483145.1:p.Cys154= | |
| NM_004260.3:c.1533C>T | NP_004251.3:p.Cys511= | |
| XM_011517380.1:c.1533C>T | XP_011515682.1:p.Cys511= | |
| XM_011517381.1:c.1437C>T | XP_011515683.1:p.Cys479= | |
| XM_011517382.1:c.1533C>T | XP_011515684.1:p.Cys511= | |
| XM_011517383.1:c.1533C>T | XP_011515685.1:p.Cys511= | |
| XM_011517384.1:c.1533C>T | XP_011515686.1:p.Cys511= | |
| XM_011517385.1:c.396C>T | XP_011515687.1:p.Cys132= | |
| XR_928366.1:n.1574C>T | ||
| XR_928367.1:n.1574C>T | ||
| XR_928368.1:n.1576C>T | ||
| XM_011517384.3:c.1533C>T | XP_011515686.1:p.Cys511= | |
| XM_017013991.2:c.1533C>T | XP_016869480.1:p.Cys511= | |
| XM_017013992.2:c.1533C>T | XP_016869481.1:p.Cys511= | |
| XM_017013993.2:c.1533C>T | XP_016869482.1:p.Cys511= | |
| XM_017013994.2:c.1437C>T | XP_016869483.1:p.Cys479= | |
| XM_017013995.2:c.1533C>T | XP_016869484.1:p.Cys511= | |
| XM_017013996.2:c.1533C>T | XP_016869485.1:p.Cys511= | |
| XM_017013997.2:c.1533C>T | XP_016869486.1:p.Cys511= | |
| XM_017013998.1:c.1533C>T | XP_016869487.1:p.Cys511= | |
| XM_017013999.2:c.1533C>T | XP_016869488.1:p.Cys511= | |
| XM_017014000.1:c.396C>T | XP_016869489.1:p.Cys132= | |
| XM_017014001.2:c.396C>T | XP_016869490.1:p.Cys132= | |
| XR_001745626.2:n.1570C>T | ||
| XR_001745627.2:n.1570C>T | ||
| XR_001745628.2:n.1570C>T | ||
| XR_001745629.2:n.1570C>T | ||
| XR_001745630.2:n.1570C>T | ||
| NM_004260.4:c.1533C>T MANE Select | NP_004251.4:p.Cys511= |