Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6151813C>T , CM000668.2:g.6151813C>T | GRCh38 |
| NC_000006.11:g.6152046C>T , CM000668.1:g.6152046C>T | GRCh37 |
| NC_000006.10:g.6097045C>T | NCBI36 |
| NG_008107.1:g.173879G>A , LRG_549:g.173879G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000129.4:c.2045G>A MANE Select | NP_000120.2:p.Arg682His |
| ENST00000264870.8:c.2045G>A MANE Select | ENSP00000264870.3:p.Arg682His |
| NM_000129.3:c.2045G>A , LRG_549t1:c.2045G>A | NP_000120.2:p.Arg682His |
| ENST00000264870.7:c.2045G>A | ENSP00000264870.3:p.Arg682His |
| XM_006715010.2:c.2045G>A | XP_006715073.1:p.Arg682His |
| XM_011514342.1:c.2207G>A | XP_011512644.1:p.Arg736His |