Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154928667C>T , CM000685.2:g.154928667C>T | GRCh38 |
| NC_000023.10:g.154156942C>T , CM000685.1:g.154156942C>T | GRCh37 |
| NC_000023.9:g.153810136C>T | NCBI36 |
| NG_011403.1:g.99057G>A | |
| NG_011403.2:g.99057G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.5123G>A MANE Select | NP_000123.1:p.Arg1708His |
| ENST00000360256.9:c.5123G>A MANE Select | ENSP00000353393.4:p.Arg1708His |
| NM_000132.3:c.5123G>A | NP_000123.1:p.Arg1708His |
| ENST00000360256.8:c.5123G>A | ENSP00000353393.4:p.Arg1708His |
| XM_011531126.1:c.5018G>A | XP_011529428.1:p.Arg1673His |