Linked Data
ClinVar Variation Id:
316022
dbSNP Id:
rs185794093
ExAC:
15:43507281 G / A
gnomAD v2:
15-43507281-G-A
gnomAD v3:
15-43215083-G-A
gnomAD v4:
15-43215083-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43215083G>A , CM000677.2:g.43215083G>A | GRCh38 |
| NC_000015.9:g.43507281G>A , CM000677.1:g.43507281G>A | GRCh37 |
| NC_000015.8:g.41294573G>A | NCBI36 |
| NG_011505.1:g.11043C>T | |
| NG_011505.2:g.15774C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441366.7:c.430+12C>T MANE Select | ENSP00000396616.2:n.430+12C>T | |
| ENST00000648595.1:c.520+12C>T | ENSP00000497777.1:n.520+12C>T | |
| ENST00000300215.7:c.520+12C>T | ENSP00000300215.3:n.520+12C>T | |
| ENST00000441366.6:c.430+12C>T | ENSP00000396616.2:n.430+12C>T | |
| ENST00000540029.5:c.196+1185C>T | ENSP00000444699.1:n.196+1185C>T | |
| ENST00000568508.5:c.289+12C>T | ENSP00000457140.1:n.289+12C>T | |
| ENST00000569204.1:c.94+12C>T | ENSP00000455489.1:n.94+12C>T | |
| ENST00000622454.4:c.430+12C>T | ENSP00000481226.1:n.430+12C>T | |
| NM_000119.2:c.520+12C>T | NP_000110.2:n.520+12C>T | |
| NM_001114134.1:c.430+12C>T | NP_001107606.1:n.430+12C>T | |
| XM_005254225.1:c.430+12C>T | XP_005254282.1:n.430+12C>T | |
| XM_011521349.1:c.520+12C>T | XP_011519651.1:n.520+12C>T | |
| XM_011521350.1:c.520+12C>T | XP_011519652.1:n.520+12C>T | |
| XM_011521351.1:c.520+12C>T | XP_011519653.1:n.520+12C>T | |
| XM_011521352.1:c.484+48C>T | XP_011519654.1:n.484+48C>T | |
| XM_011521353.1:c.520+12C>T | XP_011519655.1:n.520+12C>T | |
| XM_011521354.1:c.-152+48C>T | XP_011519656.1:n.-152+48C>T | |
| NM_000119.3:c.520+12C>T | NP_000110.2:n.520+12C>T | |
| XM_011521349.2:c.520+12C>T | XP_011519651.1:n.520+12C>T | |
| XM_011521350.2:c.520+12C>T | XP_011519652.1:n.520+12C>T | |
| XM_011521351.2:c.520+12C>T | XP_011519653.1:n.520+12C>T | |
| XM_011521352.2:c.484+48C>T | XP_011519654.1:n.484+48C>T | |
| XM_011521353.2:c.520+12C>T | XP_011519655.1:n.520+12C>T | |
| XM_011521354.2:c.-152+48C>T | XP_011519656.1:n.-152+48C>T | |
| NM_001114134.2:c.430+12C>T MANE Select | NP_001107606.1:n.430+12C>T |