Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1411113A>C , CM000667.2:g.1411113A>C | GRCh38 |
| NC_000005.9:g.1411228A>C , CM000667.1:g.1411228A>C | GRCh37 |
| NC_000005.8:g.1464228A>C | NCBI36 |
| NG_015885.1:g.39316T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1269+130T>G MANE Select | ENSP00000270349.9:n.1269+130T>G | |
| ENST00000270349.11:c.1269+130T>G | ENSP00000270349.9:n.1269+130T>G | |
| NM_001044.4:c.1269+130T>G | NP_001035.1:n.1269+130T>G | |
| NM_001044.5:c.1269+130T>G MANE Select | NP_001035.1:n.1269+130T>G |