Linked Data
ClinVar Variation Id:
1697274
ClinVar RCV Id:
RCV002267658
dbSNP Id:
rs2116852322
gnomAD v4:
7-143330856-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143330856C>T , CM000669.2:g.143330856C>T | GRCh38 |
| NC_000007.13:g.143027949C>T , CM000669.1:g.143027949C>T | GRCh37 |
| NC_000007.12:g.142738071C>T | NCBI36 |
| NG_009815.1:g.19731C>T | |
| NG_009815.2:g.19731C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.938C>T | ENSP00000498052.2:p.Ala313Val | |
| ENST00000343257.7:c.938C>T MANE Select | ENSP00000339867.2:p.Ala313Val | |
| ENST00000432192.6:c.762C>T | ||
| ENST00000455478.6:c.526C>T | ENSP00000400027.2:n.526C>T | |
| ENST00000650516.1:c.938C>T | ENSP00000498052.1:p.Ala313Val | |
| ENST00000343257.6:c.938C>T | ENSP00000339867.2:p.Ala313Val | |
| ENST00000432192.5:c.452C>T | ||
| ENST00000455478.5:c.530C>T | ||
| ENST00000495612.1:n.239C>T | ||
| NM_000083.2:c.938C>T | NP_000074.2:p.Ala313Val | |
| NR_046453.1:n.1028C>T | ||
| XM_011515781.1:c.938C>T | XP_011514083.1:p.Ala313Val | |
| XM_017011739.1:c.488C>T | XP_016867228.1:p.Ala163Val | |
| XM_017011740.1:c.488C>T | XP_016867229.1:p.Ala163Val | |
| NM_000083.3:c.938C>T MANE Select | NP_000074.3:p.Ala313Val | |
| NR_046453.2:n.1043C>T |