Linked Data
ClinVar Variation Id:
1093092
ClinVar RCV Id:
RCV001413154
dbSNP Id:
rs371576247
ExAC:
18:44159695 G / A
gnomAD v2:
18-44159695-G-A
gnomAD v3:
18-46579732-G-A
gnomAD v4:
18-46579732-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46579732G>A , CM000680.2:g.46579732G>A | GRCh38 |
| NC_000018.9:g.44159695G>A , CM000680.1:g.44159695G>A | GRCh37 |
| NC_000018.8:g.42413693G>A | NCBI36 |
| NG_016646.1:g.82302C>T | |
| NG_016646.2:g.82302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642948.1:c.1707C>T MANE Select | ENSP00000496347.1:p.Thr569= | |
| ENST00000335730.6:n.1020C>T | ||
| ENST00000441551.6:c.1707C>T | ENSP00000387621.2:p.Thr569= | |
| ENST00000536736.5:c.1707C>T | ENSP00000444586.1:p.Thr569= | |
| NM_144612.6:c.1707C>T | NP_653213.6:p.Thr569= | |
| XM_011525803.1:c.1707C>T | XP_011524105.1:p.Thr569= | |
| XM_011525804.1:c.-30-1865C>T | XP_011524106.1:n.-30-1865C>T | |
| XM_011525804.2:c.-30-1865C>T | XP_011524106.1:n.-30-1865C>T | |
| XM_017025548.1:c.1707C>T | XP_016881037.1:p.Thr569= | |
| XM_024451084.1:c.189C>T | XP_024306852.1:p.Thr63= | |
| NM_001384474.1:c.1707C>T MANE Select | NP_001371403.1:p.Thr569= | |
| NM_144612.7:c.1707C>T | NP_653213.6:p.Thr569= |