Linked Data
ClinVar Variation Id:
1015302
ClinVar RCV Id:
RCV001314143
dbSNP Id:
rs1406554534
gnomAD v2:
7-143027934-C-T
gnomAD v4:
7-143330841-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143330841C>T , CM000669.2:g.143330841C>T | GRCh38 |
| NC_000007.13:g.143027934C>T , CM000669.1:g.143027934C>T | GRCh37 |
| NC_000007.12:g.142738056C>T | NCBI36 |
| NG_009815.1:g.19716C>T | |
| NG_009815.2:g.19716C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.923C>T | ENSP00000498052.2:p.Ala308Val | |
| ENST00000343257.7:c.923C>T MANE Select | ENSP00000339867.2:p.Ala308Val | |
| ENST00000432192.6:c.747C>T | ||
| ENST00000455478.6:c.511C>T | ENSP00000400027.2:n.511C>T | |
| ENST00000650516.1:c.923C>T | ENSP00000498052.1:p.Ala308Val | |
| ENST00000343257.6:c.923C>T | ENSP00000339867.2:p.Ala308Val | |
| ENST00000432192.5:c.437C>T | ||
| ENST00000455478.5:c.515C>T | ||
| ENST00000495612.1:n.224C>T | ||
| NM_000083.2:c.923C>T | NP_000074.2:p.Ala308Val | |
| NR_046453.1:n.1013C>T | ||
| XM_011515781.1:c.923C>T | XP_011514083.1:p.Ala308Val | |
| XM_017011739.1:c.473C>T | XP_016867228.1:p.Ala158Val | |
| XM_017011740.1:c.473C>T | XP_016867229.1:p.Ala158Val | |
| NM_000083.3:c.923C>T MANE Select | NP_000074.3:p.Ala308Val | |
| NR_046453.2:n.1028C>T |