Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904511T>C , CM000685.2:g.154904511T>C | GRCh38 |
| NC_000023.10:g.154132786T>C , CM000685.1:g.154132786T>C | GRCh37 |
| NC_000023.9:g.153785980T>C | NCBI36 |
| NG_011403.1:g.123213A>G | |
| NG_011403.2:g.123213A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5600A>G MANE Select | ENSP00000353393.4:p.His1867Arg | |
| ENST00000360256.8:c.5600A>G | ENSP00000353393.4:p.His1867Arg | |
| NM_000132.3:c.5600A>G | NP_000123.1:p.His1867Arg | |
| XM_011531126.1:c.5495A>G | XP_011529428.1:p.His1832Arg | |
| NM_000132.4:c.5600A>G MANE Select | NP_000123.1:p.His1867Arg |