Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4370406T>C , CM000674.2:g.4370406T>C | GRCh38 |
| NC_000012.11:g.4479572T>C , CM000674.1:g.4479572T>C | GRCh37 |
| NC_000012.10:g.4349833T>C | NCBI36 |
| NG_007087.1:g.14323A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237837.2:c.693A>G MANE Select | ENSP00000237837.1:p.Arg231= | |
| ENST00000648100.1:c.*1967+4124T>C | ENSP00000497536.1:n.*1967+4124T>C | |
| ENST00000674624.1:c.*1204+4124T>C | ENSP00000501898.1:n.*1204+4124T>C | |
| ENST00000237837.1:c.693A>G | ENSP00000237837.1:p.Arg231= | |
| NM_020638.2:c.693A>G | NP_065689.1:p.Arg231= | |
| NM_020638.3:c.693A>G MANE Select | NP_065689.1:p.Arg231= |