Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180230566G>A , CM000663.2:g.180230566G>A | GRCh38 |
| NC_000001.10:g.180199701G>A , CM000663.1:g.180199701G>A | GRCh37 |
| NC_000001.9:g.178466324G>A | NCBI36 |
| NG_008081.1:g.5260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263726.4:c.37G>A MANE Select | ENSP00000263726.2:p.Val13Ile | |
| ENST00000263726.3:c.37G>A | ENSP00000263726.2:p.Val13Ile | |
| ENST00000558139.1:n.269G>A | ||
| NM_033343.3:c.37G>A | NP_203129.1:p.Val13Ile | |
| XM_011510105.1:c.-108+1653G>A | XP_011508407.1:n.-108+1653G>A | |
| XM_011510106.1:c.-108+1413G>A | XP_011508408.1:n.-108+1413G>A | |
| XM_011510105.2:c.-108+1653G>A | XP_011508407.1:n.-108+1653G>A | |
| XM_011510106.3:c.-108+1413G>A | XP_011508408.1:n.-108+1413G>A | |
| NM_033343.4:c.37G>A MANE Select | NP_203129.1:p.Val13Ile |