Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123199G>C , CM000685.2:g.78123199G>C | GRCh38 |
| NC_000023.10:g.77378696G>C , CM000685.1:g.77378696G>C | GRCh37 |
| NC_000023.9:g.77265352G>C | NCBI36 |
| NG_008862.1:g.24031G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000291.4:c.761G>C MANE Select | NP_000282.1:p.Gly254Ala |
| ENST00000373316.5:c.761G>C MANE Select | ENSP00000362413.4:p.Gly254Ala |
| NM_000291.3:c.761G>C | NP_000282.1:p.Gly254Ala |
| ENST00000373316.4:c.761G>C | ENSP00000362413.4:p.Gly254Ala |
| ENST00000474281.1:n.168G>C | |
| ENST00000644362.1:c.677G>C | ENSP00000496140.1:p.Gly226Ala |