Linked Data
ClinVar Variation Id:
216834
ClinVar RCV Id:
RCV000236667
RCV000416164
RCV001172781
RCV001080434
RCV001129129
RCV003947662
RCV002444813
dbSNP Id:
rs147587689
ExAC:
19:40902005 C / T
gnomAD v2:
19-40902005-C-T
gnomAD v3:
19-40396098-C-T
gnomAD v4:
19-40396098-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40396098C>T , CM000681.2:g.40396098C>T | GRCh38 |
| NC_000019.9:g.40902005C>T , CM000681.1:g.40902005C>T | GRCh37 |
| NC_000019.8:g.45593845C>T | NCBI36 |
| NG_007979.1:g.22267G>A , LRG_265:g.22267G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.2254G>A MANE Select | ENSP00000326018.6:p.Glu752Lys | |
| ENST00000673881.1:c.1837G>A | ENSP00000501070.1:p.Glu613Lys | |
| ENST00000674005.2:c.2539G>A | ENSP00000501261.1:p.Glu847Lys | |
| ENST00000674773.1:c.1837G>A | ENSP00000502579.1:p.Glu613Lys | |
| ENST00000675517.1:c.2129G>A | ||
| ENST00000676076.1:c.2115G>A | ||
| ENST00000676260.1:c.2216G>A | ||
| ENST00000676316.1:c.2141G>A | ||
| ENST00000291825.11:c.*2459G>A | ENSP00000291825.6:n.*2459G>A | |
| ENST00000324001.7:c.2254G>A | ENSP00000326018.6:p.Glu752Lys | |
| NM_020956.2:c.*2459G>A , LRG_265t1:c.*2459G>A | NP_066007.1:n.*2459G>A | |
| NM_181882.2:c.2254G>A , LRG_265t2:c.2254G>A | NP_870998.2:p.Glu752Lys | |
| XM_011527171.1:c.2254G>A | XP_011525473.1:p.Glu752Lys | |
| XM_011527171.2:c.2254G>A | XP_011525473.1:p.Glu752Lys | |
| XM_017027046.1:c.2152G>A | XP_016882535.1:p.Glu718Lys | |
| XM_017027047.1:c.2152G>A | XP_016882536.1:p.Glu718Lys | |
| NM_181882.3:c.2254G>A MANE Select | NP_870998.2:p.Glu752Lys |