Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153729358G>C , CM000685.2:g.153729358G>C | GRCh38 |
| NC_000023.10:g.152994813G>C , CM000685.1:g.152994813G>C | GRCh37 |
| NC_000023.9:g.152648007G>C | NCBI36 |
| NG_009022.2:g.9491G>C | |
| NG_023231.1:g.389C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.1027G>C MANE Select | NP_000024.2:p.Gly343Arg |
| ENST00000218104.6:c.1027G>C MANE Select | ENSP00000218104.3:p.Gly343Arg |
| NM_000033.3:c.1027G>C | NP_000024.2:p.Gly343Arg |
| ENST00000218104.5:c.1027G>C | ENSP00000218104.3:p.Gly343Arg |
| ENST00000370129.4:c.472G>C | ENSP00000359147.3:p.Gly158Arg |
| XR_938507.1:n.1443G>C | |
| XR_938507.2:n.1443G>C |