Linked Data
ClinVar Variation Id:
498670
dbSNP Id:
rs1130233
ExAC:
14:105239894 C / T
gnomAD v2:
14-105239894-C-T
gnomAD v3:
14-104773557-C-T
gnomAD v4:
14-104773557-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104773557C>T , CM000676.2:g.104773557C>T | GRCh38 |
| NC_000014.8:g.105239894C>T , CM000676.1:g.105239894C>T | GRCh37 |
| NC_000014.7:g.104310939C>T | NCBI36 |
| NG_012188.1:g.27188G>A , LRG_721:g.27188G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000554192.6:c.726G>A | ENSP00000450681.3:p.Glu242= | |
| ENST00000554585.6:c.726G>A | ENSP00000481526.2:p.Glu242= | |
| ENST00000555458.6:c.726G>A | ENSP00000451470.3:p.Glu242= | |
| ENST00000553797.2:c.801G>A | ENSP00000507566.1:p.Glu267= | |
| ENST00000554826.2:n.1195G>A | ||
| ENST00000610370.2:n.1195G>A | ||
| ENST00000682269.1:n.1243G>A | ||
| ENST00000683058.1:n.603G>A | ||
| ENST00000683722.1:c.726G>A | ENSP00000507879.1:p.Glu242= | |
| ENST00000684058.1:n.283G>A | ||
| ENST00000407796.7:c.726G>A | ENSP00000384293.2:p.Glu242= | |
| ENST00000649815.2:c.726G>A MANE Select | ENSP00000497822.1:p.Glu242= | |
| ENST00000349310.7:c.726G>A | ENSP00000270202.4:p.Glu242= | |
| ENST00000402615.6:c.726G>A | ENSP00000385326.2:p.Glu242= | |
| ENST00000407796.6:c.726G>A | ENSP00000384293.2:p.Glu242= | |
| ENST00000544168.5:n.661G>A | ||
| ENST00000553506.5:n.1124G>A | ||
| ENST00000554581.5:c.726G>A | ENSP00000451828.1:p.Glu242= | |
| ENST00000554848.5:c.726G>A | ENSP00000451166.1:p.Glu242= | |
| ENST00000555528.5:c.726G>A | ENSP00000450688.1:p.Glu242= | |
| ENST00000557552.1:n.5015G>A | ||
| NM_001014431.1:c.726G>A | NP_001014431.1:p.Glu242= | |
| NM_001014432.1:c.726G>A , LRG_721t1:c.726G>A | NP_001014432.1:p.Glu242= | |
| NM_005163.2:c.726G>A , LRG_721t2:c.726G>A | NP_005154.2:p.Glu242= | |
| XM_005267401.1:c.726G>A | XP_005267458.1:p.Glu242= | |
| XM_011536543.1:c.726G>A | XP_011534845.1:p.Glu242= | |
| XM_011536544.1:c.726G>A | XP_011534846.1:p.Glu242= | |
| XR_002957536.1:n.926G>A | ||
| NM_001014431.2:c.726G>A | NP_001014431.1:p.Glu242= | |
| NM_001014432.2:c.726G>A | NP_001014432.1:p.Glu242= | |
| NM_001382430.1:c.726G>A MANE Select | NP_001369359.1:p.Glu242= | |
| NM_001382431.1:c.726G>A | NP_001369360.1:p.Glu242= | |
| NM_001382432.1:c.726G>A | NP_001369361.1:p.Glu242= | |
| NM_001382433.1:c.726G>A | NP_001369362.1:p.Glu242= |