Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110187218C>G , CM000675.2:g.110187218C>G | GRCh38 |
| NC_000013.10:g.110839565C>G , CM000675.1:g.110839565C>G | GRCh37 |
| NC_000013.9:g.109637566C>G | NCBI36 |
| NG_011544.2:g.124932G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.1648G>C MANE Select | NP_001836.3:p.Gly550Arg |
| ENST00000375820.10:c.1648G>C MANE Select | ENSP00000364979.4:p.Gly550Arg |
| NM_001845.5:c.1648G>C | NP_001836.3:p.Gly550Arg |
| ENST00000375820.8:c.1648G>C | ENSP00000364979.4:p.Gly550Arg |
| ENST00000649738.1:n.1778G>C | |
| XM_011521048.1:c.1456G>C | XP_011519350.1:p.Gly486Arg |
| XM_011521048.2:c.1456G>C | XP_011519350.1:p.Gly486Arg |