Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18788466C>A , CM000681.2:g.18788466C>A | GRCh38 |
| NC_000019.9:g.18899275C>A , CM000681.1:g.18899275C>A | GRCh37 |
| NC_000019.8:g.18760275C>A | NCBI36 |
| NG_007070.1:g.7840G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.811G>T MANE Select | NP_000086.2:p.Asp271Tyr |
| ENST00000222271.7:c.811G>T MANE Select | ENSP00000222271.2:p.Asp271Tyr |
| NM_000095.2:c.811G>T | NP_000086.2:p.Asp271Tyr |
| ENST00000222271.6:c.811G>T | ENSP00000222271.2:p.Asp271Tyr |
| ENST00000425807.1:c.652G>T | ENSP00000403792.1:p.Asp218Tyr |
| ENST00000542601.6:c.712G>T | ENSP00000439156.2:p.Asp238Tyr |