Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74713519T>A , CM000667.2:g.74713519T>A | GRCh38 |
| NC_000005.9:g.74009344T>A , CM000667.1:g.74009344T>A | GRCh37 |
| NC_000005.8:g.74045100T>A | NCBI36 |
| NG_009770.1:g.33376T>A | |
| NG_009770.2:g.78497T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.785T>A MANE Select | NP_000512.2:p.Leu262Ter |
| ENST00000261416.12:c.785T>A MANE Select | ENSP00000261416.7:p.Leu262Ter |
| NM_000521.3:c.785T>A | NP_000512.1:p.Leu262Ter |
| NM_001292004.1:c.110T>A | NP_001278933.1:p.Leu37Ter |
| NM_001292004.2:c.110T>A | NP_001278933.1:p.Leu37Ter |
| ENST00000261416.11:c.785T>A | ENSP00000261416.7:p.Leu262Ter |
| ENST00000511181.5:c.110T>A | ENSP00000426285.1:p.Leu37Ter |