Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.72195693G>C , CM000667.2:g.72195693G>C | GRCh38 |
| NC_000005.9:g.71491520G>C , CM000667.1:g.71491520G>C | GRCh37 |
| NC_000005.8:g.71527276G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296755.12:c.2338G>C MANE Select | ENSP00000296755.7:p.Gly780Arg | |
| ENST00000296755.11:c.2338G>C | ENSP00000296755.7:p.Gly780Arg | |
| NM_005909.3:c.2338G>C | NP_005900.2:p.Gly780Arg | |
| XM_005248507.2:c.1960G>C | XP_005248564.1:p.Gly654Arg | |
| NM_001324255.1:c.1960G>C | NP_001311184.1:p.Gly654Arg | |
| NM_005909.4:c.2338G>C | NP_005900.2:p.Gly780Arg | |
| NM_005909.5:c.2338G>C MANE Select | NP_005900.2:p.Gly780Arg | |
| NM_001324255.2:c.1960G>C | NP_001311184.1:p.Gly654Arg |