Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16137994C>G , CM000663.2:g.16137994C>G | GRCh38 |
| NC_000001.10:g.16464489C>G , CM000663.1:g.16464489C>G | GRCh37 |
| NC_000001.9:g.16337076C>G | NCBI36 |
| NG_021396.1:g.23094G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004431.5:c.1171G>C MANE Select | NP_004422.2:p.Gly391Arg |
| ENST00000358432.8:c.1171G>C MANE Select | ENSP00000351209.5:p.Gly391Arg |
| NM_001329090.1:c.1009G>C | NP_001316019.1:p.Gly337Arg |
| NM_001329090.2:c.1009G>C | NP_001316019.1:p.Gly337Arg |
| NM_004431.3:c.1171G>C | NP_004422.2:p.Gly391Arg |
| NM_004431.4:c.1171G>C | NP_004422.2:p.Gly391Arg |
| ENST00000358432.7:c.1171G>C | ENSP00000351209.5:p.Gly391Arg |
| ENST00000480202.1:n.376G>C | |
| XM_017000537.1:c.1171G>C | XP_016856026.1:p.Gly391Arg |