Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814014G>T , CM000671.2:g.129814014G>T | GRCh38 |
| NC_000009.11:g.132576293G>T , CM000671.1:g.132576293G>T | GRCh37 |
| NC_000009.10:g.131616114G>T | NCBI36 |
| NG_008049.1:g.15149C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.957C>A MANE Select | ENSP00000345719.4:p.Cys319Ter | |
| ENST00000651202.1:c.*225C>A | ENSP00000498222.1:n.*225C>A | |
| ENST00000351698.4:c.957C>A | ENSP00000345719.4:p.Cys319Ter | |
| ENST00000474192.1:n.541C>A | ||
| NM_000113.2:c.957C>A | NP_000104.1:p.Cys319Ter | |
| XR_929731.3:n.1152C>A | ||
| NM_000113.3:c.957C>A MANE Select | NP_000104.1:p.Cys319Ter |