Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130664744G>T , CM000671.2:g.130664744G>T | GRCh38 |
| NC_000009.11:g.133540131G>T , CM000671.1:g.133540131G>T | GRCh37 |
| NC_000009.10:g.132529952G>T | NCBI36 |
| NG_053081.1:g.5151G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021619.3:c.91G>T MANE Select | NP_067632.2:p.Asp31Tyr |
| ENST00000253008.3:c.91G>T MANE Select | ENSP00000253008.2:p.Asp31Tyr |
| NM_021619.2:c.91G>T | NP_067632.2:p.Asp31Tyr |
| ENST00000253008.2:c.91G>T | ENSP00000253008.2:p.Asp31Tyr |
| ENST00000676323.1:c.91G>T | ENSP00000502471.1:p.Asp31Tyr |