Linked Data
dbSNP Id:
rs773696694
ExAC:
11:67353990 C / T
gnomAD v2:
11-67353990-C-T
gnomAD v3:
11-67586519-C-T
gnomAD v4:
11-67586519-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586519C>T , CM000673.2:g.67586519C>T | GRCh38 |
| NC_000011.9:g.67353990C>T , CM000673.1:g.67353990C>T | GRCh37 |
| NC_000011.8:g.67110566C>T | NCBI36 |
| NG_012075.1:g.7925C>T , LRG_723:g.7925C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.467C>T | ENSP00000381604.1:p.Ala156Val | |
| ENST00000398606.10:c.575C>T MANE Select | ENSP00000381607.3:p.Ala192Val | |
| ENST00000398603.5:c.467C>T | ENSP00000381604.1:p.Ala156Val | |
| ENST00000398606.7:c.575C>T | ENSP00000381607.3:p.Ala192Val | |
| ENST00000467591.1:n.686C>T | ||
| ENST00000494593.1:n.1547C>T | ||
| ENST00000498765.5:c.638C>T | ||
| NM_000852.3:c.575C>T , LRG_723t1:c.575C>T | NP_000843.1:p.Ala192Val | |
| NM_000852.4:c.575C>T MANE Select | NP_000843.1:p.Ala192Val |