Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800192A>G , CM000666.2:g.24800192A>G | GRCh38 |
| NC_000004.11:g.24801814A>G , CM000666.1:g.24801814A>G | GRCh37 |
| NC_000004.10:g.24410912A>G | NCBI36 |
| NG_012213.1:g.9730A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.671A>G MANE Select | ENSP00000371554.3:p.Glu224Gly | |
| ENST00000382120.3:c.671A>G | ENSP00000371554.3:p.Glu224Gly | |
| NM_003102.2:c.671A>G | NP_003093.2:p.Glu224Gly | |
| XR_427488.1:n.861A>G | ||
| NM_003102.3:c.671A>G | NP_003093.2:p.Glu224Gly | |
| NM_003102.4:c.671A>G MANE Select | NP_003093.2:p.Glu224Gly |