Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45824594C>A , CM000682.2:g.45824594C>A | GRCh38 |
| NC_000020.10:g.44453233C>A , CM000682.1:g.44453233C>A | GRCh37 |
| NC_000020.9:g.43886640C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003279.3:c.100G>T MANE Select | NP_003270.1:p.Asp34Tyr |
| ENST00000372555.8:c.100G>T MANE Select | ENSP00000361636.3:p.Asp34Tyr |
| NM_003279.2:c.100G>T | NP_003270.1:p.Asp34Tyr |
| ENST00000372555.7:c.100G>T | ENSP00000361636.3:p.Asp34Tyr |
| ENST00000372557.1:c.55G>T | ENSP00000361638.1:p.Asp19Tyr |
| XM_011529031.1:c.55G>T | XP_011527333.1:p.Asp19Tyr |
| XM_011529031.2:c.55G>T | XP_011527333.1:p.Asp19Tyr |