Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74715534G>A , CM000667.2:g.74715534G>A | GRCh38 |
| NC_000005.9:g.74011359G>A , CM000667.1:g.74011359G>A | GRCh37 |
| NC_000005.8:g.74047115G>A | NCBI36 |
| NG_009770.1:g.35391G>A | |
| NG_009770.2:g.80512G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.926G>A MANE Select | NP_000512.2:p.Cys309Tyr |
| ENST00000261416.12:c.926G>A MANE Select | ENSP00000261416.7:p.Cys309Tyr |
| NM_000521.3:c.926G>A | NP_000512.1:p.Cys309Tyr |
| NM_001292004.1:c.251G>A | NP_001278933.1:p.Cys84Tyr |
| NM_001292004.2:c.251G>A | NP_001278933.1:p.Cys84Tyr |
| ENST00000261416.11:c.926G>A | ENSP00000261416.7:p.Cys309Tyr |
| ENST00000504459.5:n.123G>A | |
| ENST00000511181.5:c.251G>A | ENSP00000426285.1:p.Cys84Tyr |