Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143493701G>C , CM000665.2:g.143493701G>C | GRCh38 |
| NC_000003.11:g.143212543G>C , CM000665.1:g.143212543G>C | GRCh37 |
| NC_000003.10:g.144695233G>C | NCBI36 |
| NG_017077.1:g.359831C>G | |
| NG_017077.2:g.359831C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173653.4:c.1267C>G MANE Select | NP_775924.1:p.Arg423Gly |
| ENST00000316549.11:c.1267C>G MANE Select | ENSP00000320246.6:p.Arg423Gly |
| NM_173653.3:c.1267C>G | NP_775924.1:p.Arg423Gly |
| ENST00000316549.10:c.1267C>G | ENSP00000320246.6:p.Arg423Gly |
| XM_011512703.1:c.619C>G | XP_011511005.1:p.Arg207Gly |
| XM_011512703.3:c.619C>G | XP_011511005.1:p.Arg207Gly |
| XM_017006202.2:c.1267C>G | XP_016861691.1:p.Arg423Gly |
| XM_017006203.1:c.916C>G | XP_016861692.1:p.Arg306Gly |