Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108772766G>T , CM000663.2:g.108772766G>T | GRCh38 |
| NC_000001.10:g.109315388G>T , CM000663.1:g.109315388G>T | GRCh37 |
| NC_000001.9:g.109116911G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370008.4:c.540G>T MANE Select | ENSP00000359025.3:p.Gln180His | |
| ENST00000370008.3:c.540G>T | ENSP00000359025.3:p.Gln180His | |
| ENST00000485167.1:n.135G>T | ||
| ENST00000486601.5:n.370G>T | ||
| NM_007269.2:c.540G>T | NP_009200.2:p.Gln180His | |
| NM_007269.3:c.540G>T | NP_009200.2:p.Gln180His | |
| NM_007269.4:c.540G>T MANE Select | NP_009200.2:p.Gln180His |