Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177433250C>G , CM000666.2:g.177433250C>G | GRCh38 |
| NC_000004.11:g.178354404C>G , CM000666.1:g.178354404C>G | GRCh37 |
| NC_000004.10:g.178591398C>G | NCBI36 |
| NG_011845.2:g.14254G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000027.4:c.904G>C MANE Select | NP_000018.2:p.Gly302Arg |
| ENST00000264595.7:c.904G>C MANE Select | ENSP00000264595.2:p.Gly302Arg |
| NM_000027.3:c.904G>C | NP_000018.2:p.Gly302Arg |
| NM_001171988.1:c.874G>C | NP_001165459.1:p.Gly292Arg |
| NM_001171988.2:c.874G>C | NP_001165459.1:p.Gly292Arg |
| NR_033655.1:n.956G>C | |
| NR_033655.2:n.890G>C | |
| ENST00000264595.6:c.904G>C | ENSP00000264595.2:p.Gly302Arg |
| XR_001741155.2:n.976G>C |