Linked Data
ClinVar Variation Id:
436339
dbSNP Id:
rs199771668
ExAC:
4:128804452 A / G
gnomAD v2:
4-128804452-A-G
gnomAD v3:
4-127883297-A-G
gnomAD v4:
4-127883297-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127883297A>G , CM000666.2:g.127883297A>G | GRCh38 |
| NC_000004.11:g.128804452A>G , CM000666.1:g.128804452A>G | GRCh37 |
| NC_000004.10:g.129023902A>G | NCBI36 |
| NG_041821.1:g.7437A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270861.10:c.162A>G MANE Select | ENSP00000270861.5:p.Val54= | |
| ENST00000270861.9:c.162A>G | ENSP00000270861.5:p.Val54= | |
| ENST00000503914.1:n.398A>G | ||
| ENST00000507249.5:c.162A>G | ENSP00000423412.1:p.Val54= | |
| ENST00000511942.5:n.400A>G | ||
| ENST00000513090.5:c.127-142A>G | ENSP00000427554.1:n.127-142A>G | |
| ENST00000514379.5:c.39A>G | ENSP00000423582.1:p.Val13= | |
| ENST00000515069.5:c.162A>G | ENSP00000421774.1:p.Val54= | |
| NM_001190799.1:c.127-142A>G | NP_001177728.1:n.127-142A>G | |
| NM_001190801.1:c.39A>G | NP_001177730.1:p.Val13= | |
| NM_014264.4:c.162A>G | NP_055079.3:p.Val54= | |
| XM_005262701.2:c.162A>G | XP_005262758.1:p.Val54= | |
| XM_011531552.1:c.162A>G | XP_011529854.1:p.Val54= | |
| XM_005262701.3:c.162A>G | XP_005262758.1:p.Val54= | |
| XM_017007662.1:c.165A>G | XP_016863151.1:p.Val55= | |
| XM_017007663.2:c.165A>G | XP_016863152.1:p.Val55= | |
| NM_014264.5:c.162A>G MANE Select | NP_055079.3:p.Val54= | |
| NM_001190799.2:c.127-142A>G | NP_001177728.1:n.127-142A>G | |
| NM_001190801.2:c.39A>G | NP_001177730.1:p.Val13= |