Linked Data
ClinVar Variation Id:
133455
dbSNP Id:
rs146875699
ExAC:
14:105246462 G / T
gnomAD v2:
14-105246462-G-T
gnomAD v3:
14-104780125-G-T
gnomAD v4:
14-104780125-G-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104780125G>T , CM000676.2:g.104780125G>T | GRCh38 |
| NC_000014.8:g.105246462G>T , CM000676.1:g.105246462G>T | GRCh37 |
| NC_000014.7:g.104317507G>T | NCBI36 |
| NG_012188.1:g.20620C>A , LRG_721:g.20620C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554192.6:c.138C>A | ENSP00000450681.3:p.Asp46Glu | |
| ENST00000554585.6:c.138C>A | ENSP00000481526.2:p.Asp46Glu | |
| ENST00000555458.6:c.138C>A | ENSP00000451470.3:p.Asp46Glu | |
| ENST00000553797.2:c.138C>A | ENSP00000507566.1:p.Asp46Glu | |
| ENST00000554826.2:n.276C>A | ||
| ENST00000610370.2:n.276C>A | ||
| ENST00000682269.1:n.655C>A | ||
| ENST00000683722.1:c.138C>A | ENSP00000507879.1:p.Asp46Glu | |
| ENST00000407796.7:c.138C>A | ENSP00000384293.2:p.Asp46Glu | |
| ENST00000649815.2:c.138C>A MANE Select | ENSP00000497822.1:p.Asp46Glu | |
| ENST00000349310.7:c.138C>A | ENSP00000270202.4:p.Asp46Glu | |
| ENST00000402615.6:c.138C>A | ENSP00000385326.2:p.Asp46Glu | |
| ENST00000407796.6:c.138C>A | ENSP00000384293.2:p.Asp46Glu | |
| ENST00000554581.5:c.138C>A | ENSP00000451828.1:p.Asp46Glu | |
| ENST00000554848.5:c.138C>A | ENSP00000451166.1:p.Asp46Glu | |
| ENST00000555380.1:n.169C>A | ||
| ENST00000555528.5:c.138C>A | ENSP00000450688.1:p.Asp46Glu | |
| ENST00000555926.1:c.138C>A | ENSP00000451824.1:p.Asp46Glu | |
| NM_001014431.1:c.138C>A | NP_001014431.1:p.Asp46Glu | |
| NM_001014432.1:c.138C>A , LRG_721t1:c.138C>A | NP_001014432.1:p.Asp46Glu | |
| NM_005163.2:c.138C>A , LRG_721t2:c.138C>A | NP_005154.2:p.Asp46Glu | |
| XM_005267401.1:c.138C>A | XP_005267458.1:p.Asp46Glu | |
| XM_011536543.1:c.138C>A | XP_011534845.1:p.Asp46Glu | |
| XM_011536544.1:c.138C>A | XP_011534846.1:p.Asp46Glu | |
| XR_002957536.1:n.338C>A | ||
| NM_001014431.2:c.138C>A | NP_001014431.1:p.Asp46Glu | |
| NM_001014432.2:c.138C>A | NP_001014432.1:p.Asp46Glu | |
| NM_001382430.1:c.138C>A MANE Select | NP_001369359.1:p.Asp46Glu | |
| NM_001382431.1:c.138C>A | NP_001369360.1:p.Asp46Glu | |
| NM_001382432.1:c.138C>A | NP_001369361.1:p.Asp46Glu | |
| NM_001382433.1:c.138C>A | NP_001369362.1:p.Asp46Glu |