dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7068463C>T , CM000680.2:g.7068463C>T | GRCh38 |
| NC_000018.9:g.7068462C>T , CM000680.1:g.7068462C>T | GRCh37 |
| NC_000018.8:g.7058462C>T | NCBI36 |
| NG_034251.1:g.54352G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389658.4:c.345+11512G>A MANE Select | ENSP00000374309.3:n.345+11512G>A | |
| ENST00000389658.3:c.345+11512G>A | ENSP00000374309.3:n.345+11512G>A | |
| ENST00000579014.5:n.384+11512G>A | ||
| NM_005559.3:c.345+11512G>A | NP_005550.2:n.345+11512G>A | |
| XM_011525655.1:c.345+11512G>A | XP_011523957.1:n.345+11512G>A | |
| XM_011525657.1:c.345+11512G>A | XP_011523959.1:n.345+11512G>A | |
| XM_011525655.2:c.345+11512G>A | XP_011523957.1:n.345+11512G>A | |
| NM_005559.4:c.345+11512G>A MANE Select | NP_005550.2:n.345+11512G>A |