Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24255975A>C , CM000676.2:g.24255975A>C | GRCh38 |
| NC_000014.8:g.24725181A>C , CM000676.1:g.24725181A>C | GRCh37 |
| NC_000014.7:g.23795021A>C | NCBI36 |
| NG_007150.1:g.12192T>G | |
| NG_007150.2:g.12192T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1491+14T>G MANE Select | ENSP00000206765.6:n.1491+14T>G | |
| ENST00000206765.10:c.1491+14T>G | ENSP00000206765.6:n.1491+14T>G | |
| ENST00000544573.5:c.165+14T>G | ENSP00000439446.1:n.165+14T>G | |
| ENST00000559136.1:c.564+14T>G | ENSP00000453337.1:n.564+14T>G | |
| NM_000359.2:c.1491+14T>G | NP_000350.1:n.1491+14T>G | |
| NM_000359.3:c.1491+14T>G MANE Select | NP_000350.1:n.1491+14T>G |