Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32334791C>G , CM000663.2:g.32334791C>G | GRCh38 |
| NC_000001.10:g.32800392C>G , CM000663.1:g.32800392C>G | GRCh37 |
| NC_000001.9:g.32572979C>G | NCBI36 |
| NG_047018.1:g.47685C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329421.8:c.394G>C MANE Select | ENSP00000362638.4:p.Gly132Arg | |
| ENST00000329421.7:c.394G>C | ENSP00000362638.4:p.Gly132Arg | |
| NM_023009.6:c.394G>C | NP_075385.1:p.Gly132Arg | |
| NR_052852.1:n.375G>C | ||
| NM_023009.7:c.394G>C MANE Select | NP_075385.1:p.Gly132Arg | |
| NR_052852.2:n.369G>C |