Linked Data
dbSNP Id:
rs1573131707
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226971G>T , CM000664.2:g.29226971G>T | GRCh38 |
| NC_000002.11:g.29449837G>T , CM000664.1:g.29449837G>T | GRCh37 |
| NC_000002.10:g.29303341G>T | NCBI36 |
| NG_009445.1:g.699596C>A , LRG_488:g.699596C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3018C>A MANE Select | ENSP00000373700.3:p.Cys1006Ter | |
| ENST00000431873.6:c.184C>A | ||
| ENST00000389048.7:c.3018C>A | ENSP00000373700.3:p.Cys1006Ter | |
| ENST00000618119.4:c.1887C>A | ENSP00000482733.1:p.Cys629Ter | |
| NM_004304.4:c.3018C>A | NP_004295.2:p.Cys1006Ter | |
| XM_024452778.1:c.171C>A | XP_024308546.1:p.Cys57Ter | |
| XR_001738688.2:n.3874C>A | ||
| NM_004304.5:c.3018C>A MANE Select | NP_004295.2:p.Cys1006Ter |