Linked Data
ClinVar Variation Id:
466180
ClinVar RCV Id:
RCV000544281
dbSNP Id:
rs762327875
ExAC:
2:175618974 G / A
gnomAD v2:
2-175618974-G-A
gnomAD v3:
2-174754246-G-A
gnomAD v4:
2-174754246-G-A
COSMIC:
COSM1482199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174754246G>A , CM000664.2:g.174754246G>A | GRCh38 |
| NC_000002.11:g.175618974G>A , CM000664.1:g.175618974G>A | GRCh37 |
| NC_000002.10:g.175327220G>A | NCBI36 |
| NG_008172.1:g.15227C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.24C>T | ENSP00000490338.2:p.Tyr8= | |
| ENST00000672640.1:c.24C>T | ENSP00000500507.1:p.Tyr8= | |
| ENST00000261007.9:c.588C>T | ENSP00000261007.5:p.Tyr196= | |
| ENST00000348749.9:c.513C>T MANE Select | ENSP00000261008.5:p.Tyr171= | |
| ENST00000409219.5:c.513C>T | ENSP00000386611.1:p.Tyr171= | |
| ENST00000409323.1:c.513C>T | ENSP00000386684.1:p.Tyr171= | |
| ENST00000409542.5:c.267C>T | ENSP00000387026.1:p.Tyr89= | |
| ENST00000435083.5:c.*157C>T | ENSP00000395805.1:n.*157C>T | |
| NM_000079.3:c.513C>T | NP_000070.1:p.Tyr171= | |
| NM_001039523.2:c.588C>T | NP_001034612.1:p.Tyr196= | |
| XM_017003256.1:c.609C>T | XP_016858745.1:p.Tyr203= | |
| XM_017003257.1:c.534C>T | XP_016858746.1:p.Tyr178= | |
| NM_000079.4:c.513C>T MANE Select | NP_000070.1:p.Tyr171= | |
| NM_001039523.3:c.588C>T | NP_001034612.1:p.Tyr196= |