Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774641T>C , CM000683.2:g.43774641T>C | GRCh38 |
| NC_000021.8:g.45194522T>C , CM000683.1:g.45194522T>C | GRCh37 |
| NC_000021.7:g.44018950T>C | NCBI36 |
| NG_011545.1:g.6738A>G , LRG_485:g.6738A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.168+17A>G MANE Select | ENSP00000291568.6:n.168+17A>G | |
| ENST00000480147.3:n.1628A>G | ||
| ENST00000639959.1:c.36-311A>G | ||
| ENST00000640406.1:c.185A>G | ENSP00000492672.1:p.Gln62Arg | |
| ENST00000675996.1:n.593+17A>G | ||
| ENST00000291568.5:c.168+17A>G | ENSP00000291568.5:n.168+17A>G | |
| ENST00000480147.1:n.222A>G | ||
| NM_000100.3:c.168+17A>G , LRG_485t1:c.168+17A>G | NP_000091.1:n.168+17A>G | |
| NM_000100.4:c.168+17A>G MANE Select | NP_000091.1:n.168+17A>G |