Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016068T>G , CM000681.2:g.49016068T>G | GRCh38 |
| NC_000019.9:g.49519325T>G , CM000681.1:g.49519325T>G | GRCh37 |
| NC_000019.8:g.54211137T>G | NCBI36 |
| NG_011464.1:g.6023A>C | |
| NG_033041.1:g.27170T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.426A>C MANE Select | ENSP00000497294.2:p.Ter142Tyr | |
| ENST00000221421.6:c.426A>C | ENSP00000221421.1:p.Ter142Tyr | |
| ENST00000391869.4:c.416A>C | ENSP00000375742.4:p.Lys139Thr | |
| NM_000894.2:c.426A>C | NP_000885.1:p.Ter142Tyr | |
| XM_011526975.1:c.474A>C | XP_011525277.1:p.Ter158Tyr | |
| NM_000894.3:c.426A>C MANE Select | NP_000885.1:p.Ter142Tyr |