Linked Data
ClinVar Variation Id:
219431
dbSNP Id:
rs769076258
ExAC:
16:68842438 G / A
gnomAD v2:
16-68842438-G-A
gnomAD v3:
16-68808535-G-A
gnomAD v4:
16-68808535-G-A
PubMed:
PMID:26976419
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68808535G>A , CM000678.2:g.68808535G>A | GRCh38 |
| NC_000016.9:g.68842438G>A , CM000678.1:g.68842438G>A | GRCh37 |
| NC_000016.8:g.67399939G>A | NCBI36 |
| NG_008021.1:g.76244G>A , LRG_301:g.76244G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.499G>A MANE Select | ENSP00000261769.4:p.Glu167Lys | |
| ENST00000261769.9:c.499G>A | ENSP00000261769.4:p.Glu167Lys | |
| ENST00000422392.6:c.499G>A | ENSP00000414946.2:p.Glu167Lys | |
| ENST00000561751.1:c.266G>A | ||
| ENST00000562836.5:n.570G>A | ||
| ENST00000564676.5:n.781G>A | ||
| ENST00000564745.1:n.494G>A | ||
| ENST00000566510.5:c.499G>A | ENSP00000458139.1:p.Glu167Lys | |
| ENST00000566612.5:c.499G>A | ENSP00000454782.1:p.Glu167Lys | |
| ENST00000567320.1:n.9G>A | ||
| ENST00000611625.4:c.499G>A | ENSP00000481063.1:p.Glu167Lys | |
| ENST00000612417.4:c.499G>A | ENSP00000478360.1:p.Glu167Lys | |
| ENST00000621016.4:c.499G>A | ENSP00000480664.1:p.Glu167Lys | |
| NM_004360.3:c.499G>A , LRG_301t1:c.499G>A | NP_004351.1:p.Glu167Lys | |
| XM_011523488.1:c.-237G>A | XP_011521790.1:n.-237G>A | |
| XM_011523489.1:c.-237G>A | XP_011521791.1:n.-237G>A | |
| NM_001317184.1:c.499G>A | NP_001304113.1:p.Glu167Lys | |
| NM_001317185.1:c.-1117G>A | NP_001304114.1:n.-1117G>A | |
| NM_001317186.1:c.-1321G>A | NP_001304115.1:n.-1321G>A | |
| NM_004360.4:c.499G>A | NP_004351.1:p.Glu167Lys | |
| NM_004360.5:c.499G>A MANE Select | NP_004351.1:p.Glu167Lys | |
| NM_001317184.2:c.499G>A | NP_001304113.1:p.Glu167Lys | |
| NM_001317185.2:c.-1117G>A | NP_001304114.1:n.-1117G>A | |
| NM_001317186.2:c.-1321G>A | NP_001304115.1:n.-1321G>A |