Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135916233C>A , CM000664.2:g.135916233C>A | GRCh38 |
| NC_000002.11:g.136673803C>A , CM000664.1:g.136673803C>A | GRCh37 |
| NC_000002.10:g.136390273C>A | NCBI36 |
| NG_034149.1:g.74452G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001349.4:c.1099G>T MANE Select | NP_001340.2:p.Asp367Tyr |
| ENST00000264161.9:c.1099G>T MANE Select | ENSP00000264161.4:p.Asp367Tyr |
| NM_001293312.1:c.799G>T | NP_001280241.1:p.Asp267Tyr |
| NM_001349.3:c.1099G>T | NP_001340.2:p.Asp367Tyr |
| ENST00000264161.8:c.1099G>T | ENSP00000264161.4:p.Asp367Tyr |
| ENST00000422708.3:c.241G>T | ENSP00000387508.1:p.Asp81Tyr |