Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352162G>C , CM000679.2:g.44352162G>C | GRCh38 |
| NC_000017.10:g.42429530G>C , CM000679.1:g.42429530G>C | GRCh37 |
| NC_000017.9:g.39785056G>C | NCBI36 |
| NG_007886.1:g.12040G>C , LRG_661:g.12040G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1327G>C MANE Select | ENSP00000053867.2:p.Gly443Arg | |
| ENST00000639447.1:c.1137-367G>C | ENSP00000492014.1:n.1137-367G>C | |
| ENST00000053867.7:c.1327G>C | ENSP00000053867.2:p.Gly443Arg | |
| ENST00000586443.1:c.768G>C | ||
| ENST00000589265.5:c.856G>C | ENSP00000467616.1:p.Gly286Arg | |
| NM_002087.3:c.1327G>C | NP_002078.1:p.Gly443Arg | |
| XM_005257253.1:c.1327G>C | XP_005257310.1:p.Gly443Arg | |
| XM_024450730.1:c.1327G>C | XP_024306498.1:p.Gly443Arg | |
| NM_002087.4:c.1327G>C MANE Select | NP_002078.1:p.Gly443Arg |