Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29296915A>G , CM000664.2:g.29296915A>G | GRCh38 |
| NC_000002.11:g.29519781A>G , CM000664.1:g.29519781A>G | GRCh37 |
| NC_000002.10:g.29373285A>G | NCBI36 |
| NG_009445.1:g.629652T>C , LRG_488:g.629652T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1790T>C MANE Select | NP_004295.2:p.Val597Ala |
| ENST00000389048.8:c.1790T>C MANE Select | ENSP00000373700.3:p.Val597Ala |
| NM_004304.4:c.1790T>C | NP_004295.2:p.Val597Ala |
| ENST00000389048.7:c.1790T>C | ENSP00000373700.3:p.Val597Ala |
| ENST00000498037.1:n.345T>C | |
| ENST00000618119.4:c.659T>C | ENSP00000482733.1:p.Val220Ala |
| XR_001738688.2:n.2720T>C |