Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48465033T>A , CM000675.2:g.48465033T>A | GRCh38 |
| NC_000013.10:g.49039169T>A , CM000675.1:g.49039169T>A | GRCh37 |
| NC_000013.9:g.47937170T>A | NCBI36 |
| NG_009009.1:g.166287T>A , LRG_517:g.166287T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2247T>A MANE Select | ENSP00000267163.4:p.Tyr749Ter | |
| ENST00000643064.1:c.194+83590T>A | ||
| ENST00000650461.1:c.2247T>A | ENSP00000497193.1:p.Tyr749Ter | |
| ENST00000267163.4:c.2247T>A | ENSP00000267163.4:p.Tyr749Ter | |
| NM_000321.2:c.2247T>A , LRG_517t1:c.2247T>A | NP_000312.2:p.Tyr749Ter | |
| XM_011535171.1:c.1986T>A | XP_011533473.1:p.Tyr662Ter | |
| XM_011535171.2:c.1986T>A | XP_011533473.1:p.Tyr662Ter | |
| NM_000321.3:c.2247T>A MANE Select | NP_000312.2:p.Tyr749Ter |