Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442313C>T , CM000666.2:g.177442313C>T | GRCh38 |
| NC_000004.11:g.178363467C>T , CM000666.1:g.178363467C>T | GRCh37 |
| NC_000004.10:g.178600461C>T | NCBI36 |
| NG_011845.2:g.5191G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000027.4:c.63G>A MANE Select | NP_000018.2:p.Val21= |
| ENST00000264595.7:c.63G>A MANE Select | ENSP00000264595.2:p.Val21= |
| NM_000027.3:c.63G>A | NP_000018.2:p.Val21= |
| NM_001171988.1:c.63G>A | NP_001165459.1:p.Val21= |
| NM_001171988.2:c.63G>A | NP_001165459.1:p.Val21= |
| NR_033655.1:n.191G>A | |
| NR_033655.2:n.125G>A | |
| ENST00000264595.6:c.63G>A | ENSP00000264595.2:p.Val21= |
| ENST00000506853.5:n.97G>A | |
| ENST00000510955.5:n.97G>A | |
| ENST00000511231.1:n.97G>A | |
| XM_006714123.2:c.63G>A | XP_006714186.1:p.Val21= |
| XR_001741155.2:n.157G>A |