Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208128363C>T , CM000664.2:g.208128363C>T | GRCh38 |
| NC_000002.11:g.208993087C>T , CM000664.1:g.208993087C>T | GRCh37 |
| NC_000002.10:g.208701332C>T | NCBI36 |
| NG_008038.1:g.6468G>A | |
| NG_008039.1:g.1227G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020989.4:c.365G>A MANE Select | NP_066269.1:p.Arg122His |
| ENST00000282141.4:c.365G>A MANE Select | ENSP00000282141.3:p.Arg122His |
| NM_020989.3:c.365G>A | NP_066269.1:p.Arg122His |
| NR_038437.1:n.98-8693C>T | |
| ENST00000282141.3:c.365G>A | ENSP00000282141.3:p.Arg122His |
| XM_011510661.1:c.365G>A | XP_011508963.1:p.Arg122His |
| XM_011510662.1:c.365G>A | XP_011508964.1:p.Arg122His |
| XM_011510663.1:c.236G>A | XP_011508965.1:p.Arg79His |