Linked Data
ClinVar Variation Id:
1558254
dbSNP Id:
rs185185288
ExAC:
15:45003830 C / T
gnomAD v2:
15-45003830-C-T
gnomAD v3:
15-44711632-C-T
gnomAD v4:
15-44711632-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711632C>T , CM000677.2:g.44711632C>T | GRCh38 |
| NC_000015.9:g.45003830C>T , CM000677.1:g.45003830C>T | GRCh37 |
| NC_000015.8:g.42791122C>T | NCBI36 |
| NG_012920.1:g.5146C>T | |
| NG_012920.2:g.5156C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695792.1:n.83+192C>T | ||
| ENST00000648006.3:c.67+19C>T MANE Select | ENSP00000497910.1:n.67+19C>T | |
| ENST00000349264.10:c.57+29C>T | ENSP00000340858.6:n.57+29C>T | |
| ENST00000544417.5:c.67+19C>T | ENSP00000437604.2:n.67+19C>T | |
| ENST00000557901.5:c.67+19C>T | ENSP00000452861.1:n.67+19C>T | |
| ENST00000558401.5:c.67+19C>T | ENSP00000452780.1:n.67+19C>T | |
| ENST00000559720.5:n.127+19C>T | ||
| ENST00000559916.1:c.67+19C>T | ENSP00000453350.1:n.67+19C>T | |
| ENST00000561424.5:c.67+19C>T | ENSP00000453191.1:n.67+19C>T | |
| NM_004048.2:c.67+19C>T | NP_004039.1:n.67+19C>T | |
| XM_005254549.2:c.67+19C>T | XP_005254606.1:n.67+19C>T | |
| NM_004048.3:c.67+19C>T | NP_004039.1:n.67+19C>T | |
| XM_005254549.3:c.67+19C>T | XP_005254606.1:n.67+19C>T | |
| XR_002957658.1:n.122+19C>T | ||
| NM_004048.4:c.67+19C>T MANE Select | NP_004039.1:n.67+19C>T |