Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996074G>C , CM000663.2:g.196996074G>C | GRCh38 |
| NC_000001.10:g.196965204G>C , CM000663.1:g.196965204G>C | GRCh37 |
| NC_000001.9:g.195231827G>C | NCBI36 |
| NG_016365.1:g.23538G>C , LRG_227:g.23538G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.588G>C | ENSP00000514393.1:p.Gln196His | |
| ENST00000699467.1:n.912G>C | ||
| ENST00000699468.1:c.-24-40G>C | ENSP00000514394.1:n.-24-40G>C | |
| ENST00000256785.5:c.843G>C MANE Select | ENSP00000256785.4:p.Gln281His | |
| ENST00000256785.4:c.843G>C | ENSP00000256785.4:p.Gln281His | |
| NM_030787.3:c.843G>C , LRG_227t1:c.843G>C | NP_110414.1:p.Gln281His | |
| XM_011510020.1:c.852G>C | XP_011508322.1:p.Gln284His | |
| XM_011510020.2:c.852G>C | XP_011508322.1:p.Gln284His | |
| NM_030787.4:c.843G>C MANE Select | NP_110414.1:p.Gln281His |