Linked Data
ClinVar Variation Id:
500756
dbSNP Id:
rs11550119
ExAC:
1:160252826 G / A
gnomAD v2:
1-160252826-G-A
gnomAD v3:
1-160283036-G-A
gnomAD v4:
1-160283036-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160283036G>A , CM000663.2:g.160283036G>A | GRCh38 |
| NC_000001.10:g.160252826G>A , CM000663.1:g.160252826G>A | GRCh37 |
| NC_000001.9:g.158519450G>A | NCBI36 |
| NG_008637.1:g.7116C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368072.10:c.254C>T MANE Select | ENSP00000357051.5:p.Ala85Val | |
| ENST00000556710.6:c.*21C>T | ENSP00000451235.2:n.*21C>T | |
| ENST00000368072.9:c.254C>T | ENSP00000357051.5:p.Ala85Val | |
| ENST00000392220.2:c.194C>T | ENSP00000376054.2:p.Ala65Val | |
| ENST00000462644.5:c.194C>T | ENSP00000435896.1:p.Ala65Val | |
| ENST00000472750.5:c.*21C>T | ENSP00000434633.1:n.*21C>T | |
| ENST00000524939.1:n.271C>T | ||
| ENST00000532508.5:n.226C>T | ||
| ENST00000532643.5:c.254C>T | ENSP00000435915.1:p.Ala85Val | |
| ENST00000533104.1:n.153C>T | ||
| ENST00000533699.5:n.248C>T | ||
| ENST00000556710.5:c.-102C>T | ENSP00000451235.1:n.-102C>T | |
| NM_001193644.1:c.254C>T | NP_001180573.1:p.Ala85Val | |
| NM_002857.3:c.254C>T | NP_002848.1:p.Ala85Val | |
| NR_036492.1:n.171C>T | ||
| NR_036493.1:n.281C>T | ||
| NM_002857.4:c.254C>T MANE Select | NP_002848.1:p.Ala85Val | |
| NR_036492.2:n.153C>T | ||
| NR_036493.2:n.263C>T |