Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135914489C>G , CM000664.2:g.135914489C>G | GRCh38 |
| NC_000002.11:g.136672059C>G , CM000664.1:g.136672059C>G | GRCh37 |
| NC_000002.10:g.136388529C>G | NCBI36 |
| NG_034149.1:g.76196G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264161.9:c.1129G>C MANE Select | ENSP00000264161.4:p.Gly377Arg | |
| ENST00000264161.8:c.1129G>C | ENSP00000264161.4:p.Gly377Arg | |
| ENST00000422708.3:c.271G>C | ENSP00000387508.1:p.Gly91Arg | |
| ENST00000489964.5:n.378G>C | ||
| NM_001293312.1:c.829G>C | NP_001280241.1:p.Gly277Arg | |
| NM_001349.3:c.1129G>C | NP_001340.2:p.Gly377Arg | |
| NM_001349.4:c.1129G>C MANE Select | NP_001340.2:p.Gly377Arg |