Linked Data
ClinVar Variation Id:
324615
dbSNP Id:
rs188779461
ExAC:
17:6330187 C / T
gnomAD v2:
17-6330187-C-T
gnomAD v3:
17-6426867-C-T
gnomAD v4:
17-6426867-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6426867C>T , CM000679.2:g.6426867C>T | GRCh38 |
| NC_000017.10:g.6330187C>T , CM000679.1:g.6330187C>T | GRCh37 |
| NC_000017.9:g.6270911C>T | NCBI36 |
| NG_008474.1:g.13333G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.642+14G>A MANE Select | ENSP00000370521.3:n.642+14G>A | |
| ENST00000250087.9:c.453+14G>A | ENSP00000250087.5:n.453+14G>A | |
| ENST00000381128.2:c.*514+14G>A | ENSP00000370520.2:n.*514+14G>A | |
| ENST00000381129.7:c.642+14G>A | ENSP00000370521.3:n.642+14G>A | |
| ENST00000570466.5:c.576+14G>A | ENSP00000461287.1:n.576+14G>A | |
| ENST00000570584.5:c.251+7052G>A | ||
| ENST00000571740.5:c.618+14G>A | ENSP00000460134.1:n.618+14G>A | |
| ENST00000574506.5:c.606+14G>A | ENSP00000458456.1:n.606+14G>A | |
| ENST00000575265.5:c.642+14G>A | ENSP00000459673.1:n.642+14G>A | |
| ENST00000576307.5:c.462+14G>A | ENSP00000459522.1:n.462+14G>A | |
| ENST00000576776.5:c.642+14G>A | ENSP00000460827.1:n.642+14G>A | |
| ENST00000621374.4:c.642+14G>A | ENSP00000481337.1:n.642+14G>A | |
| NM_001033054.2:c.453+14G>A | NP_001028226.1:n.453+14G>A | |
| NM_001033055.2:c.462+14G>A | NP_001028227.1:n.462+14G>A | |
| NM_001285399.2:c.606+14G>A | NP_001272328.1:n.606+14G>A | |
| NM_001285400.2:c.576+14G>A | NP_001272329.1:n.576+14G>A | |
| NM_001285401.2:c.642+14G>A | NP_001272330.1:n.642+14G>A | |
| NM_001285402.1:c.525+14G>A | NP_001272331.1:n.525+14G>A | |
| NM_001285403.2:c.618+14G>A | NP_001272332.1:n.618+14G>A | |
| NM_014336.4:c.642+14G>A | NP_055151.3:n.642+14G>A | |
| NM_001033054.3:c.453+14G>A | NP_001028226.1:n.453+14G>A | |
| NM_001033055.3:c.462+14G>A | NP_001028227.1:n.462+14G>A | |
| NM_001285399.3:c.606+14G>A | NP_001272328.1:n.606+14G>A | |
| NM_001285400.3:c.576+14G>A | NP_001272329.1:n.576+14G>A | |
| NM_001285401.3:c.642+14G>A | NP_001272330.1:n.642+14G>A | |
| NM_001285402.2:c.525+14G>A | NP_001272331.1:n.525+14G>A | |
| NM_001285403.3:c.618+14G>A | NP_001272332.1:n.618+14G>A | |
| NM_014336.5:c.642+14G>A MANE Select | NP_055151.3:n.642+14G>A | |
| NM_001285403.4:c.618+14G>A | NP_001272332.1:n.618+14G>A |