Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7050692A>C , CM000680.2:g.7050692A>C | GRCh38 |
| NC_000018.9:g.7050691A>C , CM000680.1:g.7050691A>C | GRCh37 |
| NC_000018.8:g.7040691A>C | NCBI36 |
| NG_034251.1:g.72123T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389658.4:c.588+2T>G MANE Select | ENSP00000374309.3:n.588+2T>G | |
| ENST00000389658.3:c.588+2T>G | ENSP00000374309.3:n.588+2T>G | |
| ENST00000579014.5:n.627+2T>G | ||
| NM_005559.3:c.588+2T>G | NP_005550.2:n.588+2T>G | |
| XM_011525655.1:c.588+2T>G | XP_011523957.1:n.588+2T>G | |
| XM_011525657.1:c.588+2T>G | XP_011523959.1:n.588+2T>G | |
| XM_011525655.2:c.588+2T>G | XP_011523957.1:n.588+2T>G | |
| NM_005559.4:c.588+2T>G MANE Select | NP_005550.2:n.588+2T>G |