Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58576799T>G , CM000663.2:g.58576799T>G | GRCh38 |
| NC_000001.10:g.59042471T>G , CM000663.1:g.59042471T>G | GRCh37 |
| NC_000001.9:g.58815059T>G | NCBI36 |
| NG_016237.1:g.5696A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.358A>C MANE Select | ENSP00000360269.2:p.Asn120His | |
| ENST00000371225.3:c.358A>C | ENSP00000360269.2:p.Asn120His | |
| NM_002353.2:c.358A>C | NP_002344.2:p.Asn120His | |
| NM_002353.3:c.358A>C MANE Select | NP_002344.2:p.Asn120His |