Linked Data
ClinVar Variation Id:
2890571
ClinVar RCV Id:
RCV003720554
dbSNP Id:
rs560960982
ExAC:
15:100672250 C / T
gnomAD v2:
15-100672250-C-T
gnomAD v3:
15-100132045-C-T
gnomAD v4:
15-100132045-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100132045C>T , CM000677.2:g.100132045C>T | GRCh38 |
| NC_000015.9:g.100672250C>T , CM000677.1:g.100672250C>T | GRCh37 |
| NC_000015.8:g.98489773C>T | NCBI36 |
| NG_016287.1:g.214934G>A | |
| NG_016287.2:g.214934G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268070.9:c.1683G>A MANE Select | ENSP00000268070.4:p.Thr561= | |
| ENST00000568565.2:c.1683G>A | ENSP00000456161.2:p.Thr561= | |
| ENST00000268070.8:c.1683G>A | ENSP00000268070.4:p.Thr561= | |
| ENST00000378898.8:n.1364G>A | ||
| NM_139057.2:c.1683G>A | NP_620688.2:p.Thr561= | |
| XM_005254872.2:c.1683G>A | XP_005254929.1:p.Thr561= | |
| XM_011521312.1:c.1683G>A | XP_011519614.1:p.Thr561= | |
| NM_139057.3:c.1683G>A | NP_620688.2:p.Thr561= | |
| XM_005254872.3:c.1683G>A | XP_005254929.1:p.Thr561= | |
| XM_011521312.2:c.1683G>A | XP_011519614.1:p.Thr561= | |
| XM_017021973.2:c.1815G>A | XP_016877462.1:p.Thr605= | |
| XM_017021974.1:c.1815G>A | XP_016877463.1:p.Thr605= | |
| XM_017021975.1:c.1815G>A | XP_016877464.1:p.Thr605= | |
| XM_017021976.1:c.1086G>A | XP_016877465.1:p.Thr362= | |
| XM_017021977.1:c.1815G>A | XP_016877466.1:p.Thr605= | |
| XM_017021978.1:c.717G>A | XP_016877467.1:p.Thr239= | |
| XM_017021979.1:c.495G>A | XP_016877468.1:p.Thr165= | |
| XM_017021980.1:c.495G>A | XP_016877469.1:p.Thr165= | |
| XM_017021981.1:c.1815G>A | XP_016877470.1:p.Thr605= | |
| XM_017021982.1:c.204G>A | XP_016877471.1:p.Thr68= | |
| XM_017021983.1:c.27-15032G>A | XP_016877472.1:n.27-15032G>A | |
| XM_017021984.1:c.954G>A | XP_016877473.1:p.Thr318= | |
| XR_001751118.1:n.2837G>A | ||
| XR_001751119.1:n.2837G>A | ||
| XR_001751120.1:n.2837G>A | ||
| NM_139057.4:c.1683G>A MANE Select | NP_620688.2:p.Thr561= |