Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951819C>A , CM000670.2:g.19951819C>A | GRCh38 |
| NC_000008.10:g.19809330C>A , CM000670.1:g.19809330C>A | GRCh37 |
| NC_000008.9:g.19853610C>A | NCBI36 |
| NG_008855.1:g.17749C>A | |
| NG_008855.2:g.55103C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.300C>A MANE Select | NP_000228.1:p.Tyr100Ter |
| ENST00000650287.1:c.300C>A MANE Select | ENSP00000497642.1:p.Tyr100Ter |
| NM_000237.2:c.300C>A | NP_000228.1:p.Tyr100Ter |
| ENST00000311322.8:c.300C>A | ENSP00000309757.6:p.Tyr100Ter |
| ENST00000520959.5:c.72C>A | ENSP00000428496.1:p.Tyr24Ter |
| ENST00000521994.1:n.557C>A | |
| ENST00000522701.5:c.300C>A | ENSP00000428557.1:p.Tyr100Ter |
| ENST00000524029.5:c.300C>A | ENSP00000428237.1:p.Tyr100Ter |