Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.56565588C>T , CM000685.2:g.56565588C>T | GRCh38 |
| NC_000023.10:g.56592021C>T , CM000685.1:g.56592021C>T | GRCh37 |
| NC_000023.9:g.56608746C>T | NCBI36 |
| NG_016249.1:g.6996C>T , LRG_665:g.6996C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013444.4:c.1715C>T MANE Select | NP_038472.2:p.Ala572Val |
| ENST00000338222.7:c.1715C>T MANE Select | ENSP00000345195.5:p.Ala572Val |
| NM_013444.3:c.1715C>T , LRG_665t1:c.1715C>T | NP_038472.2:p.Ala572Val |
| ENST00000338222.6:c.1715C>T | ENSP00000345195.5:p.Ala572Val |
| XM_011530837.1:c.273+1848C>T | XP_011529139.1:n.273+1848C>T |