Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22466373G>C , CM000677.2:g.22466373G>C | GRCh38 |
| NC_000015.9:g.23406723C>G , CM000677.1:g.23406723C>G | GRCh37 |
| NC_000015.8:g.20958164C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001396956.1:c.2113G>C MANE Select | NP_001383885.1:p.Gly705Arg |
| ENST00000622895.2:c.2113G>C MANE Select | ENSP00000483673.2:p.Gly705Arg |
| NM_001396957.1:c.2110G>C | NP_001383886.1:p.Gly704Arg |
| ENST00000620691.4:c.1855-156G>C | ENSP00000484257.1:n.1855-156G>C |
| ENST00000622895.1:c.1981G>C | ENSP00000483673.1:p.Gly661Arg |
| XM_011543882.1:c.1279G>C | XP_011542184.1:p.Gly427Arg |
| XM_011543882.2:c.1279G>C | XP_011542184.1:p.Gly427Arg |