Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307155T>C , CM000673.2:g.121307155T>C | GRCh38 |
| NC_000011.9:g.121177864T>C , CM000673.1:g.121177864T>C | GRCh37 |
| NC_000011.8:g.120683074T>C | NCBI36 |
| NG_009446.1:g.19477T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.543T>C MANE Select | ENSP00000264027.4:p.His181= | |
| ENST00000264027.8:c.543T>C | ENSP00000264027.4:p.His181= | |
| ENST00000392789.2:c.543T>C | ENSP00000376539.2:p.His181= | |
| ENST00000527183.1:n.836T>C | ||
| ENST00000528991.1:n.236T>C | ||
| ENST00000534230.5:c.543T>C | ENSP00000432550.1:p.His181= | |
| NM_001024956.2:c.543T>C | NP_001020127.1:p.His181= | |
| NM_006918.4:c.543T>C | NP_008849.2:p.His181= | |
| NM_006918.5:c.543T>C MANE Select | NP_008849.2:p.His181= | |
| NM_001024956.3:c.543T>C | NP_001020127.1:p.His181= |