Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.52322096A>G , CM000676.2:g.52322096A>G | GRCh38 |
| NC_000014.8:g.52788814A>G , CM000676.1:g.52788814A>G | GRCh37 |
| NC_000014.7:g.51858564A>G | NCBI36 |
| NG_013082.1:g.12799A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245457.6:c.844-5125A>G MANE Select | ENSP00000245457.5:n.844-5125A>G | |
| ENST00000245457.5:c.844-5125A>G | ENSP00000245457.5:n.844-5125A>G | |
| ENST00000557436.1:c.79-5125A>G | ENSP00000450933.1:n.79-5125A>G | |
| NM_000956.3:c.844-5125A>G | NP_000947.2:n.844-5125A>G | |
| NM_000956.4:c.844-5125A>G MANE Select | NP_000947.2:n.844-5125A>G |