Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2229115G>C , CM000663.2:g.2229115G>C | GRCh38 |
| NC_000001.10:g.2160554G>C , CM000663.1:g.2160554G>C | GRCh37 |
| NC_000001.9:g.2150414G>C | NCBI36 |
| NG_013084.1:g.5421G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704337.1:n.137+1591G>C | ||
| ENST00000378536.5:c.349G>C MANE Select | ENSP00000367797.4:p.Gly117Arg | |
| ENST00000378536.4:c.349G>C | ENSP00000367797.4:p.Gly117Arg | |
| NM_003036.3:c.349G>C | NP_003027.1:p.Gly117Arg | |
| XM_005244775.2:c.349G>C | XP_005244832.1:p.Gly117Arg | |
| XM_005244775.3:c.349G>C | XP_005244832.1:p.Gly117Arg | |
| NM_003036.4:c.349G>C MANE Select | NP_003027.1:p.Gly117Arg |