Linked Data
ClinVar Variation Id:
3181
dbSNP Id:
rs113313967
ExAC:
15:43023404 C / T
gnomAD v2:
15-43023404-C-T
gnomAD v3:
15-42731206-C-T
gnomAD v4:
15-42731206-C-T
PubMed:
PMID:16098079
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42731206C>T , CM000677.2:g.42731206C>T | GRCh38 |
| NC_000015.9:g.43023404C>T , CM000677.1:g.43023404C>T | GRCh37 |
| NC_000015.8:g.40810696C>T | NCBI36 |
| NG_012491.1:g.11014G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356231.4:c.1860+5G>A MANE Select | ENSP00000348564.3:n.1860+5G>A | |
| ENST00000643434.1:c.*1038+5G>A | ENSP00000494699.1:n.*1038+5G>A | |
| ENST00000356231.3:c.1860+5G>A | ENSP00000348564.3:n.1860+5G>A | |
| NM_138477.2:c.1860+5G>A | NP_612486.2:n.1860+5G>A | |
| XM_005254176.3:c.1863+5G>A | XP_005254233.1:n.1863+5G>A | |
| XM_011521270.1:c.1887+5G>A | XP_011519572.1:n.1887+5G>A | |
| XM_011521271.1:c.1884+5G>A | XP_011519573.1:n.1884+5G>A | |
| XM_011521272.1:c.1887+5G>A | XP_011519574.1:n.1887+5G>A | |
| XM_011521273.1:c.1887+5G>A | XP_011519575.1:n.1887+5G>A | |
| XM_011521274.1:c.852+5G>A | XP_011519576.1:n.852+5G>A | |
| XM_011521275.1:c.1104+5G>A | XP_011519577.1:n.1104+5G>A | |
| XR_931757.1:n.1898+5G>A | ||
| NM_138477.4:c.1860+5G>A MANE Select | NP_612486.2:n.1860+5G>A | |
| XM_005254176.5:c.1863+5G>A | XP_005254233.1:n.1863+5G>A | |
| XM_011521270.2:c.1887+5G>A | XP_011519572.1:n.1887+5G>A | |
| XM_011521271.2:c.1884+5G>A | XP_011519573.1:n.1884+5G>A | |
| XM_011521274.2:c.852+5G>A | XP_011519576.1:n.852+5G>A | |
| XR_001751104.1:n.1917+5G>A | ||
| XR_001751105.1:n.1917+5G>A | ||
| XR_931757.2:n.1918+5G>A |