Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184598458T>A , CM000664.2:g.184598458T>A | GRCh38 |
| NC_000002.11:g.185463185T>A , CM000664.1:g.185463185T>A | GRCh37 |
| NC_000002.10:g.185171430T>A | NCBI36 |
| NG_046950.1:g.5093T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_194250.1:c.-502T>A | NP_919226.1:n.-502T>A |
| NR_171621.1:n.465A>T | |
| ENST00000302277.6:c.-502T>A | ENSP00000303252.6:n.-502T>A |
| XM_011512285.1:c.428A>T | XP_011510587.1:p.Gln143Leu |