Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524749G>A , CM000680.2:g.31524749G>A | GRCh38 |
| NC_000018.9:g.29104712G>A , CM000680.1:g.29104712G>A | GRCh37 |
| NC_000018.8:g.27358710G>A | NCBI36 |
| NG_007072.3:g.31508G>A , LRG_397:g.31508G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.875G>A MANE Select | NP_001934.2:p.Arg292His |
| ENST00000261590.13:c.875G>A MANE Select | ENSP00000261590.8:p.Arg292His |
| NM_001943.3:c.875G>A , LRG_397t1:c.875G>A | NP_001934.2:p.Arg292His |
| NM_001943.4:c.875G>A | NP_001934.2:p.Arg292His |
| ENST00000261590.12:c.875G>A | ENSP00000261590.8:p.Arg292His |
| ENST00000682087.1:c.706G>A | |
| ENST00000682087.2:n.706G>A | |
| ENST00000683614.1:c.706G>A | |
| ENST00000683614.2:n.706G>A | |
| XM_024451095.1:c.341G>A | XP_024306863.1:p.Arg114His |