Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144974G>T , CM000670.2:g.96144974G>T | GRCh38 |
| NC_000008.10:g.97157202G>T , CM000670.1:g.97157202G>T | GRCh37 |
| NC_000008.9:g.97226378G>T | NCBI36 |
| NG_008981.1:g.20819C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001557.4:c.957C>A MANE Select | NP_001001557.1:p.Ala319= |
| ENST00000287020.7:c.957C>A MANE Select | ENSP00000287020.4:p.Ala319= |
| NM_001001557.2:c.957C>A | NP_001001557.1:p.Ala319= |
| NM_001001557.3:c.957C>A | NP_001001557.1:p.Ala319= |
| ENST00000287020.6:c.957C>A | ENSP00000287020.4:p.Ala319= |
| ENST00000620978.1:c.793+102C>A | ENSP00000480170.1:n.793+102C>A |
| ENST00000621429.1:c.874+83C>A | ENSP00000483711.1:n.874+83C>A |
| XM_011517030.1:c.558C>A | XP_011515332.1:p.Ala186= |