gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13932150G>T , CM000678.2:g.13932150G>T | GRCh38 |
| NC_000016.9:g.14026007G>T , CM000678.1:g.14026007G>T | GRCh37 |
| NC_000016.8:g.13933508G>T | NCBI36 |
| NG_011442.1:g.16994G>T , LRG_463:g.16994G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682552.1:n.962-7G>T | ||
| ENST00000682568.1:n.1052-7G>T | ||
| ENST00000682617.1:c.1112-7G>T | ENSP00000507912.1:n.1112-7G>T | |
| ENST00000682826.1:c.*288-7G>T | ENSP00000507274.1:n.*288-7G>T | |
| ENST00000682909.1:n.3014-7G>T | ||
| ENST00000683277.1:n.2619-7G>T | ||
| ENST00000683407.1:n.982-7G>T | ||
| ENST00000683962.1:c.*668-7G>T | ENSP00000506854.1:n.*668-7G>T | |
| ENST00000311895.8:c.974-7G>T MANE Select | ENSP00000310520.7:n.974-7G>T | |
| ENST00000311895.7:c.974-7G>T | ENSP00000310520.7:n.974-7G>T | |
| ENST00000389138.7:n.125G>T | ||
| ENST00000574194.1:c.501-7G>T | ||
| ENST00000575156.5:c.974-7G>T | ENSP00000459933.1:n.974-7G>T | |
| NM_005236.2:c.974-7G>T , LRG_463t1:c.974-7G>T | NP_005227.1:n.974-7G>T | |
| XM_011522424.1:c.1112-7G>T | XP_011520726.1:n.1112-7G>T | |
| XM_011522425.1:c.431-7G>T | XP_011520727.1:n.431-7G>T | |
| XM_011522426.1:c.185-7G>T | XP_011520728.1:n.185-7G>T | |
| XR_932805.1:n.1133-7G>T | ||
| XM_011522424.3:c.1112-7G>T | XP_011520726.1:n.1112-7G>T | |
| XM_017023043.2:c.185-7G>T | XP_016878532.1:n.185-7G>T | |
| NM_005236.3:c.974-7G>T MANE Select | NP_005227.1:n.974-7G>T |