Linked Data
dbSNP Id:
rs111947448
gnomAD v2:
15-45007620-G-T
gnomAD v4:
15-44715422-G-T
MutSpliceDB:
CA392232570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44715422G>T , CM000677.2:g.44715422G>T | GRCh38 |
| NC_000015.9:g.45007620G>T , CM000677.1:g.45007620G>T | GRCh37 |
| NC_000015.8:g.42794912G>T | NCBI36 |
| NG_012920.1:g.8936G>T | |
| NG_012920.2:g.8946G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695792.1:n.84-1G>T | ||
| ENST00000648006.3:c.68-1G>T MANE Select | ENSP00000497910.1:n.68-1G>T | |
| ENST00000349264.10:c.58-124G>T | ENSP00000340858.6:n.58-124G>T | |
| ENST00000544417.5:c.68-1G>T | ENSP00000437604.2:n.68-1G>T | |
| ENST00000557901.5:c.68-12G>T | ENSP00000452861.1:n.68-12G>T | |
| ENST00000558401.5:c.68-1G>T | ENSP00000452780.1:n.68-1G>T | |
| ENST00000559220.1:n.42+874G>T | ||
| ENST00000559720.5:n.128-1G>T | ||
| ENST00000559907.5:n.95-1G>T | ||
| ENST00000559916.1:c.68-1G>T | ENSP00000453350.1:n.68-1G>T | |
| ENST00000560681.1:n.63-1G>T | ||
| ENST00000561424.5:c.68-1G>T | ENSP00000453191.1:n.68-1G>T | |
| NM_004048.2:c.68-1G>T | NP_004039.1:n.68-1G>T | |
| XM_005254549.2:c.68-1G>T | XP_005254606.1:n.68-1G>T | |
| NM_004048.3:c.68-1G>T | NP_004039.1:n.68-1G>T | |
| XM_005254549.3:c.68-1G>T | XP_005254606.1:n.68-1G>T | |
| XR_002957658.1:n.123-1G>T | ||
| NM_004048.4:c.68-1G>T MANE Select | NP_004039.1:n.68-1G>T |