Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110912851A>C , CM000674.2:g.110912851A>C | GRCh38 |
| NC_000012.11:g.111350655A>C , CM000674.1:g.111350655A>C | GRCh37 |
| NC_000012.10:g.109835038A>C | NCBI36 |
| NG_007554.1:g.12727T>G , LRG_393:g.12727T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000432.4:c.402+245T>G MANE Select | NP_000423.2:n.402+245T>G |
| ENST00000228841.15:c.402+245T>G MANE Select | ENSP00000228841.8:n.402+245T>G |
| NM_000432.3:c.402+245T>G , LRG_393t1:c.402+245T>G | NP_000423.2:n.402+245T>G |
| ENST00000228841.12:c.402+245T>G | ENSP00000228841.7:n.402+245T>G |
| ENST00000548438.1:c.360+245T>G | ENSP00000447154.1:n.360+245T>G |
| ENST00000663220.1:c.345+245T>G | ENSP00000499568.1:n.345+245T>G |