Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016045T>A , CM000681.2:g.49016045T>A | GRCh38 |
| NC_000019.9:g.49519302T>A , CM000681.1:g.49519302T>A | GRCh37 |
| NC_000019.8:g.54211114T>A | NCBI36 |
| NG_011464.1:g.6046A>T | |
| NG_033041.1:g.27147T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.*23A>T MANE Select | ENSP00000497294.2:n.*23A>T | |
| ENST00000221421.6:c.449A>T | ENSP00000221421.1:n.449A>T | |
| ENST00000391869.4:c.439A>T | ENSP00000375742.4:p.Ser147Cys | |
| NM_000894.2:c.*23A>T | NP_000885.1:n.*23A>T | |
| XM_011526975.1:c.*23A>T | XP_011525277.1:n.*23A>T | |
| NM_000894.3:c.*23A>T MANE Select | NP_000885.1:n.*23A>T |