Linked Data
dbSNP Id:
rs1446316181
gnomAD v2:
10-72517828-C-A
gnomAD v4:
10-70758072-C-A
COSMIC:
COSM3786712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70758072C>A , CM000672.2:g.70758072C>A | GRCh38 |
| NC_000010.10:g.72517828C>A , CM000672.1:g.72517828C>A | GRCh37 |
| NC_000010.9:g.72187834C>A | NCBI36 |
| NG_042147.1:g.90270C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373207.2:c.3048C>A MANE Select | ENSP00000362303.1:p.Cys1016Ter | |
| ENST00000373207.1:c.3048C>A | ENSP00000362303.1:p.Cys1016Ter | |
| ENST00000373208.5:c.3057C>A | ENSP00000362304.1:p.Cys1019Ter | |
| NM_080722.3:c.3048C>A | NP_542453.2:p.Cys1016Ter | |
| NM_139155.2:c.3057C>A | NP_631894.2:p.Cys1019Ter | |
| XM_011539300.1:c.2547C>A | XP_011537602.1:p.Cys849Ter | |
| XM_011539301.1:c.2121C>A | XP_011537603.1:p.Cys707Ter | |
| XM_011539302.1:c.2121C>A | XP_011537604.1:p.Cys707Ter | |
| XM_011539309.1:c.1617C>A | XP_011537611.1:p.Cys539Ter | |
| NM_080722.4:c.3048C>A MANE Select | NP_542453.2:p.Cys1016Ter | |
| NM_139155.3:c.3057C>A | NP_631894.2:p.Cys1019Ter | |
| XM_011539300.2:c.2547C>A | XP_011537602.1:p.Cys849Ter | |
| XM_011539301.2:c.2121C>A | XP_011537603.1:p.Cys707Ter | |
| XM_011539302.2:c.2121C>A | XP_011537604.1:p.Cys707Ter |