Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184598458T>G , CM000664.2:g.184598458T>G | GRCh38 |
| NC_000002.11:g.185463185T>G , CM000664.1:g.185463185T>G | GRCh37 |
| NC_000002.10:g.185171430T>G | NCBI36 |
| NG_046950.1:g.5093T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_194250.1:c.-502T>G | NP_919226.1:n.-502T>G |
| NR_171621.1:n.465A>C | |
| ENST00000302277.6:c.-502T>G | ENSP00000303252.6:n.-502T>G |
| XM_011512285.1:c.428A>C | XP_011510587.1:p.Gln143Pro |