Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.114839431C>G , CM000666.2:g.114839431C>G | GRCh38 |
| NC_000004.11:g.115760587C>G , CM000666.1:g.115760587C>G | GRCh37 |
| NC_000004.10:g.115980036C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022569.3:c.2233G>C MANE Select | NP_072091.1:p.Gly745Arg |
| ENST00000264363.7:c.2233G>C MANE Select | ENSP00000264363.2:p.Gly745Arg |
| NM_022569.1:c.2233G>C | NP_072091.1:p.Gly745Arg |
| NM_022569.2:c.2233G>C | NP_072091.1:p.Gly745Arg |
| ENST00000264363.6:c.2233G>C | ENSP00000264363.2:p.Gly745Arg |
| ENST00000504854.1:c.*84G>C | ENSP00000423218.1:n.*84G>C |
| ENST00000613194.4:c.*84G>C | ENSP00000483949.1:n.*84G>C |
| XM_017008545.2:c.1096G>C | XP_016864034.1:p.Gly366Arg |
| XM_017008546.1:c.1096G>C | XP_016864035.1:p.Gly366Arg |