Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.741343T>G , CM000669.2:g.741343T>G | GRCh38 |
| NC_000007.13:g.780980T>G , CM000669.1:g.780980T>G | GRCh37 |
| NC_000007.12:g.747506T>G | NCBI36 |
| NG_033137.1:g.19643T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017802.4:c.906-4T>G MANE Select | NP_060272.3:n.906-4T>G |
| ENST00000297440.11:c.906-4T>G MANE Select | ENSP00000297440.6:n.906-4T>G |
| NM_017802.3:c.906-4T>G | NP_060272.3:n.906-4T>G |
| NR_075098.1:n.864-4T>G | |
| NR_075098.2:n.866-4T>G | |
| ENST00000297440.10:c.906-4T>G | ENSP00000297440.6:n.906-4T>G |
| ENST00000437419.5:c.223-4T>G | |
| ENST00000438961.1:n.375-4T>G | |
| ENST00000440747.5:c.310-4T>G | |
| XM_024446813.1:c.906-4T>G | XP_024302581.1:n.906-4T>G |
| XM_024446814.1:c.300-4T>G | XP_024302582.1:n.300-4T>G |