Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99982078C>T , CM000675.2:g.99982078C>T | GRCh38 |
| NC_000013.10:g.100634332C>T , CM000675.1:g.100634332C>T | GRCh37 |
| NC_000013.9:g.99432333C>T | NCBI36 |
| NG_007085.2:g.5014C>T | |
| NG_007085.3:g.5323C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.14C>T MANE Select | ENSP00000365514.3:p.Ala5Val | |
| ENST00000376335.7:c.14C>T | ENSP00000365514.3:p.Ala5Val | |
| ENST00000620342.1:c.14C>T | ENSP00000481510.1:p.Ala5Val | |
| NM_007129.3:c.14C>T | NP_009060.2:p.Ala5Val | |
| XM_011521110.1:c.14C>T | XP_011519412.1:p.Ala5Val | |
| NM_007129.4:c.14C>T | NP_009060.2:p.Ala5Val | |
| NM_007129.5:c.14C>T MANE Select | NP_009060.2:p.Ala5Val |