Linked Data
ClinVar Variation Id:
128133
ClinVar RCV Id:
RCV000116087
RCV000121758
RCV000318539
RCV000656936
RCV001030647
RCV001356207
RCV001798359
RCV000989556
RCV004529947
dbSNP Id:
rs587778587
ExAC:
16:23640966 C / T
gnomAD v2:
16-23640966-C-T
gnomAD v3:
16-23629645-C-T
gnomAD v4:
16-23629645-C-T
COSMIC:
COSM3279835
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23629645C>T , CM000678.2:g.23629645C>T | GRCh38 |
| NC_000016.9:g.23640966C>T , CM000678.1:g.23640966C>T | GRCh37 |
| NC_000016.8:g.23548467C>T | NCBI36 |
| NG_007406.1:g.16713G>A , LRG_308:g.16713G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2515G>A | ENSP00000460666.3:p.Glu839Lys | |
| ENST00000565038.2:c.212-370G>A | ENSP00000459882.2:n.212-370G>A | |
| ENST00000566069.6:c.2509G>A | ENSP00000459237.2:p.Glu837Lys | |
| ENST00000697377.2:c.2515G>A | ENSP00000513286.2:p.Glu839Lys | |
| ENST00000697379.2:c.2515G>A | ENSP00000513287.2:p.Glu839Lys | |
| ENST00000561514.2:c.1624G>A | ENSP00000460666.2:p.Glu542Lys | |
| ENST00000697374.1:c.1624G>A | ENSP00000513284.1:p.Glu542Lys | |
| ENST00000697375.1:n.3856G>A | ||
| ENST00000697376.1:c.1624G>A | ENSP00000513285.1:p.Glu542Lys | |
| ENST00000697377.1:c.1624G>A | ENSP00000513286.1:p.Glu542Lys | |
| ENST00000697378.1:n.3029G>A | ||
| ENST00000697379.1:c.1624G>A | ENSP00000513287.1:p.Glu542Lys | |
| ENST00000697380.1:n.1437G>A | ||
| ENST00000697381.1:n.1204G>A | ||
| ENST00000697382.1:c.1624G>A | ENSP00000513288.1:p.Glu542Lys | |
| ENST00000697383.1:c.49-370G>A | ENSP00000513289.1:n.49-370G>A | |
| ENST00000697384.1:n.2663G>A | ||
| ENST00000261584.9:c.2509G>A MANE Select | ENSP00000261584.4:p.Glu837Lys | |
| ENST00000261584.8:c.2509G>A | ENSP00000261584.4:p.Glu837Lys | |
| ENST00000565038.1:c.87-370G>A | ||
| ENST00000568219.5:c.1624G>A | ENSP00000454703.2:p.Glu542Lys | |
| NM_024675.3:c.2509G>A , LRG_308t1:c.2509G>A | NP_078951.2:p.Glu837Lys | |
| XM_011545946.1:c.2515G>A | XP_011544248.1:p.Glu839Lys | |
| XM_011545947.1:c.2515G>A | XP_011544249.1:p.Glu839Lys | |
| XM_011545948.1:c.1624G>A | XP_011544250.1:p.Glu542Lys | |
| XR_950851.1:n.3305G>A | ||
| XM_011545946.2:c.2515G>A | XP_011544248.1:p.Glu839Lys | |
| XM_011545947.2:c.2515G>A | XP_011544249.1:p.Glu839Lys | |
| XM_011545948.2:c.1624G>A | XP_011544250.1:p.Glu542Lys | |
| XM_017023671.1:c.2515G>A | XP_016879160.1:p.Glu839Lys | |
| XM_017023672.2:c.2509G>A | XP_016879161.1:p.Glu837Lys | |
| XM_017023673.2:c.2509G>A | XP_016879162.1:p.Glu837Lys | |
| NM_024675.4:c.2509G>A MANE Select | NP_078951.2:p.Glu837Lys |