Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55396197C>T , CM000666.2:g.55396197C>T | GRCh38 |
| NC_000004.11:g.56262364C>T , CM000666.1:g.56262364C>T | GRCh37 |
| NC_000004.10:g.55957121C>T | NCBI36 |
| NG_032881.1:g.5285C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018475.5:c.8C>T MANE Select | NP_060945.2:p.Ala3Val |
| ENST00000381334.10:c.8C>T MANE Select | ENSP00000370736.5:p.Ala3Val |
| NM_018475.4:c.8C>T | NP_060945.2:p.Ala3Val |
| NR_073070.1:n.285C>T | |
| NR_073070.2:n.241C>T | |
| ENST00000381334.9:c.8C>T | ENSP00000370736.5:p.Ala3Val |
| ENST00000506198.5:c.8C>T | ENSP00000425449.1:p.Ala3Val |
| ENST00000508404.5:c.8C>T | ENSP00000422639.1:p.Ala3Val |
| XM_011534394.1:c.8C>T | XP_011532696.1:p.Ala3Val |
| XM_011534394.3:c.8C>T | XP_011532696.1:p.Ala3Val |
| XR_001741287.2:n.545C>T |