Linked Data
ClinVar Variation Id:
1402851
ClinVar RCV Id:
RCV001908749
dbSNP Id:
rs1563074540
gnomAD v4:
7-143321770-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321770C>A , CM000669.2:g.143321770C>A | GRCh38 |
| NC_000007.13:g.143018863C>A , CM000669.1:g.143018863C>A | GRCh37 |
| NC_000007.12:g.142728985C>A | NCBI36 |
| NG_009815.1:g.10645C>A | |
| NG_009815.2:g.10645C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.618C>A | ENSP00000498052.2:p.Tyr206Ter | |
| ENST00000343257.7:c.618C>A MANE Select | ENSP00000339867.2:p.Tyr206Ter | |
| ENST00000432192.6:c.386C>A | ||
| ENST00000455478.6:c.72C>A | ENSP00000400027.2:p.Tyr24Ter | |
| ENST00000650516.1:c.618C>A | ENSP00000498052.1:p.Tyr206Ter | |
| ENST00000343257.6:c.618C>A | ENSP00000339867.2:p.Tyr206Ter | |
| ENST00000432192.5:c.76C>A | ||
| ENST00000455478.5:c.76C>A | ||
| ENST00000495612.1:n.76C>A | ||
| NM_000083.2:c.618C>A | NP_000074.2:p.Tyr206Ter | |
| NR_046453.1:n.705C>A | ||
| XM_011515781.1:c.618C>A | XP_011514083.1:p.Tyr206Ter | |
| XM_017011739.1:c.325C>A | XP_016867228.1:p.Pro109Thr | |
| XM_017011740.1:c.325C>A | XP_016867229.1:p.Pro109Thr | |
| NM_000083.3:c.618C>A MANE Select | NP_000074.3:p.Tyr206Ter | |
| NR_046453.2:n.720C>A |