Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255699C= , CM000671.2:g.133255699C= | GRCh38 |
| NC_000009.11:g.136131086C= , CM000671.1:g.136131086C= | GRCh37 |
| NC_000009.10:g.135120907C= | NCBI36 |
| NG_006669.1:g.21969G= | |
| NG_006669.2:g.24517G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1061G= | ||
| ENST00000647353.1:n.54-4547G= | ||
| ENST00000679909.1:c.28+19463G= | ENSP00000506089.1:n.28+19463G= | |
| ENST00000453660.3:n.1043G= | ||
| ENST00000538324.2:c.1029G= | ENSP00000483018.1:p.Val343= | |
| ENST00000611156.4:c.1029G= | ENSP00000483265.1:p.Val343= | |
| NM_020469.2:c.1032G= | NP_065202.2:p.Val344= | |
| NM_020469.3:c.1032G= | NP_065202.2:p.Val344= |