Linked Data
ClinVar Variation Id:
222528
dbSNP Id:
rs767252151
ExAC:
2:189957140 G / A
gnomAD v2:
2-189957140-G-A
gnomAD v3:
2-189092414-G-A
gnomAD v4:
2-189092414-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189092414G>A , CM000664.2:g.189092414G>A | GRCh38 |
| NC_000002.11:g.189957140G>A , CM000664.1:g.189957140G>A | GRCh37 |
| NC_000002.10:g.189665385G>A | NCBI36 |
| NG_011799.1:g.92466C>T | |
| NG_011799.2:g.92466C>T | |
| NG_011799.3:g.137888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.463C>T MANE Select | ENSP00000364000.3:p.Arg155Cys | |
| ENST00000649966.1:c.325C>T | ENSP00000496785.1:p.Arg109Cys | |
| ENST00000374866.7:c.463C>T | ENSP00000364000.3:p.Arg155Cys | |
| ENST00000618828.1:c.-168C>T | ENSP00000482184.1:n.-168C>T | |
| NM_000393.3:c.463C>T | NP_000384.2:p.Arg155Cys | |
| XM_011510573.1:c.325C>T | XP_011508875.1:p.Arg109Cys | |
| NM_000393.4:c.463C>T | NP_000384.2:p.Arg155Cys | |
| XM_011510573.3:c.325C>T | XP_011508875.1:p.Arg109Cys | |
| NM_000393.5:c.463C>T MANE Select | NP_000384.2:p.Arg155Cys |