Linked Data
ClinVar Variation Id:
130697
dbSNP Id:
rs660339
ExAC:
11:73689104 G / A
gnomAD v2:
11-73689104-G-A
gnomAD v3:
11-73978059-G-A
gnomAD v4:
11-73978059-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.73978059G>A , CM000673.2:g.73978059G>A | GRCh38 |
| NC_000011.9:g.73689104G>A , CM000673.1:g.73689104G>A | GRCh37 |
| NC_000011.8:g.73366752G>A | NCBI36 |
| NG_011478.1:g.9786C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310473.9:c.164C>T | ENSP00000312029.3:p.Ala55Val | |
| ENST00000663595.2:c.164C>T MANE Select | ENSP00000499695.1:p.Ala55Val | |
| ENST00000310473.7:c.164C>T | ENSP00000312029.3:p.Ala55Val | |
| ENST00000536983.5:c.164C>T | ENSP00000441147.1:p.Ala55Val | |
| ENST00000544615.5:c.83C>T | ENSP00000439951.1:p.Ala28Val | |
| NM_003355.2:c.164C>T | NP_003346.2:p.Ala55Val | |
| XM_024448674.1:c.167C>T | XP_024304442.1:p.Ala56Val | |
| NM_001381943.1:c.164C>T | NP_001368872.1:p.Ala55Val | |
| NM_001381944.1:c.164C>T | NP_001368873.1:p.Ala55Val | |
| NM_001381945.1:c.164C>T | NP_001368874.1:p.Ala55Val | |
| NM_001381947.1:c.164C>T | NP_001368876.1:p.Ala55Val | |
| NM_001381948.1:c.164C>T | NP_001368877.1:p.Ala55Val | |
| NM_001381949.1:c.164C>T | NP_001368878.1:p.Ala55Val | |
| NM_001381950.1:c.164C>T | NP_001368879.1:p.Ala55Val | |
| NM_003355.3:c.164C>T MANE Select | NP_003346.2:p.Ala55Val |