ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.255869G>C , CM000669.2:g.255869G>C | GRCh38 |
| NC_000007.13:g.295835G>C , CM000669.1:g.295835G>C | GRCh37 |
| NG_033970.1:g.65505G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.1093G>C MANE Select | ENSP00000322323.5:p.Gly365Arg | |
| ENST00000313766.5:c.1093G>C | ENSP00000322323.5:p.Gly365Arg | |
| ENST00000515795.1:n.750G>C | ||
| NM_020223.3:c.1093G>C | NP_064608.2:p.Gly365Arg | |
| XR_242097.3:n.1240G>C | ||
| XM_017012450.1:c.1354G>C | XP_016867939.1:p.Gly452Arg | |
| XM_017012451.1:c.1351G>C | XP_016867940.1:p.Gly451Arg | |
| XM_017012455.2:c.391G>C | XP_016867944.1:p.Gly131Arg | |
| NM_020223.4:c.1093G>C MANE Select | NP_064608.2:p.Gly365Arg |