Linked Data
ClinVar Variation Id:
237106
ClinVar RCV Id:
RCV000229179
RCV000273444
RCV000295866
RCV000270822
RCV000365739
RCV000330801
RCV000362980
RCV000387643
RCV000506463
RCV001706243
dbSNP Id:
rs187553035
ExAC:
15:48704843 C / T
gnomAD v2:
15-48704843-C-T
gnomAD v3:
15-48412646-C-T
gnomAD v4:
15-48412646-C-T
PubMed:
PMID:26188975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412646C>T , CM000677.2:g.48412646C>T | GRCh38 |
| NC_000015.9:g.48704843C>T , CM000677.1:g.48704843C>T | GRCh37 |
| NC_000015.8:g.46492135C>T | NCBI36 |
| NG_008805.2:g.238143G>A , LRG_778:g.238143G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*957G>A | ENSP00000453958.2:n.*957G>A | |
| ENST00000674301.2:c.*1662G>A | ENSP00000501333.2:n.*1662G>A | |
| ENST00000682158.1:n.1530G>A | ||
| ENST00000682170.1:n.2330G>A | ||
| ENST00000682767.1:n.1446G>A | ||
| ENST00000316623.10:c.8149G>A MANE Select | ENSP00000325527.5:p.Glu2717Lys | |
| ENST00000674301.1:c.3315G>A | ENSP00000501333.1:n.3315G>A | |
| ENST00000316623.9:c.8149G>A | ENSP00000325527.5:p.Glu2717Lys | |
| ENST00000559133.5:c.3518G>A | ||
| ENST00000561429.1:n.404G>A | ||
| NM_000138.4:c.8149G>A , LRG_778t1:c.8149G>A | NP_000129.3:p.Glu2717Lys | |
| NM_000138.5:c.8149G>A MANE Select | NP_000129.3:p.Glu2717Lys |