Linked Data
ClinVar Variation Id:
1093513
ClinVar RCV Id:
RCV001413701
RCV001844290
RCV003446753
RCV003446749
RCV003446750
RCV003446751
RCV003446752
dbSNP Id:
rs755679518
ExAC:
1:43394608 G / A
gnomAD v2:
1-43394608-G-A
gnomAD v3:
1-42928937-G-A
gnomAD v4:
1-42928937-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42928937G>A , CM000663.2:g.42928937G>A | GRCh38 |
| NC_000001.10:g.43394608G>A , CM000663.1:g.43394608G>A | GRCh37 |
| NC_000001.9:g.43167195G>A | NCBI36 |
| NG_008232.1:g.35240C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1069C>T MANE Select | ENSP00000416293.2:p.Leu357= | |
| ENST00000674545.1:n.563C>T | ||
| ENST00000674765.1:c.1029+40C>T | ENSP00000501811.1:n.1029+40C>T | |
| ENST00000675112.1:n.1370C>T | ||
| ENST00000676254.1:n.1518C>T | ||
| ENST00000426263.7:c.1069C>T | ENSP00000416293.2:p.Leu357= | |
| ENST00000475162.3:c.415+1689C>T | ||
| ENST00000630287.2:c.*384C>T | ENSP00000486694.1:n.*384C>T | |
| NM_006516.2:c.1069C>T | NP_006507.2:p.Leu357= | |
| NM_006516.3:c.1069C>T | NP_006507.2:p.Leu357= | |
| NM_006516.4:c.1069C>T MANE Select | NP_006507.2:p.Leu357= |