Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151266851G>C , CM000667.2:g.151266851G>C | GRCh38 |
| NC_000005.9:g.150646412G>C , CM000667.1:g.150646412G>C | GRCh37 |
| NC_000005.8:g.150626605G>C | NCBI36 |
| NG_009059.1:g.18800G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000405.5:c.364G>C MANE Select | NP_000396.2:p.Gly122Arg |
| ENST00000357164.4:c.364G>C MANE Select | ENSP00000349687.3:p.Gly122Arg |
| NM_000405.4:c.364G>C | NP_000396.2:p.Gly122Arg |
| NM_001167607.1:c.364G>C | NP_001161079.1:p.Gly122Arg |
| NM_001167607.2:c.364G>C | NP_001161079.1:p.Gly122Arg |
| NM_001167607.3:c.364G>C | NP_001161079.1:p.Gly122Arg |
| ENST00000357164.3:c.364G>C | ENSP00000349687.3:p.Gly122Arg |
| ENST00000523004.1:c.239G>C | |
| ENST00000523466.5:c.409G>C | ENSP00000429100.1:p.Gly137Arg |