Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74697076T>G , CM000667.2:g.74697076T>G | GRCh38 |
| NC_000005.9:g.73992901T>G , CM000667.1:g.73992901T>G | GRCh37 |
| NC_000005.8:g.74028657T>G | NCBI36 |
| NG_009770.1:g.16933T>G | |
| NG_009770.2:g.62054T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.639T>G MANE Select | NP_000512.2:p.Tyr213Ter |
| ENST00000261416.12:c.639T>G MANE Select | ENSP00000261416.7:p.Tyr213Ter |
| NM_000521.3:c.639T>G | NP_000512.1:p.Tyr213Ter |
| NM_001292004.1:c.-37T>G | NP_001278933.1:n.-37T>G |
| NM_001292004.2:c.-37T>G | NP_001278933.1:n.-37T>G |
| ENST00000261416.11:c.639T>G | ENSP00000261416.7:p.Tyr213Ter |
| ENST00000510820.1:n.358T>G | |
| ENST00000511181.5:c.-37T>G | ENSP00000426285.1:n.-37T>G |
| ENST00000513079.5:n.704T>G |