Linked Data
ClinVar Variation Id:
1358417
ClinVar RCV Id:
RCV001864078
dbSNP Id:
rs761511512
ExAC:
7:143018877 C / T
gnomAD v2:
7-143018877-C-T
gnomAD v3:
7-143321784-C-T
gnomAD v4:
7-143321784-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321784C>T , CM000669.2:g.143321784C>T | GRCh38 |
| NC_000007.13:g.143018877C>T , CM000669.1:g.143018877C>T | GRCh37 |
| NC_000007.12:g.142728999C>T | NCBI36 |
| NG_009815.1:g.10659C>T | |
| NG_009815.2:g.10659C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.632C>T | ENSP00000498052.2:p.Ala211Val | |
| ENST00000343257.7:c.632C>T MANE Select | ENSP00000339867.2:p.Ala211Val | |
| ENST00000432192.6:c.400C>T | ||
| ENST00000455478.6:c.86C>T | ENSP00000400027.2:p.Ala29Val | |
| ENST00000650516.1:c.632C>T | ENSP00000498052.1:p.Ala211Val | |
| ENST00000343257.6:c.632C>T | ENSP00000339867.2:p.Ala211Val | |
| ENST00000432192.5:c.90C>T | ||
| ENST00000455478.5:c.90C>T | ||
| ENST00000495612.1:n.90C>T | ||
| NM_000083.2:c.632C>T | NP_000074.2:p.Ala211Val | |
| NR_046453.1:n.719C>T | ||
| XM_011515781.1:c.632C>T | XP_011514083.1:p.Ala211Val | |
| XM_017011739.1:c.339C>T | XP_016867228.1:p.Ser113= | |
| XM_017011740.1:c.339C>T | XP_016867229.1:p.Ser113= | |
| NM_000083.3:c.632C>T MANE Select | NP_000074.3:p.Ala211Val | |
| NR_046453.2:n.734C>T |