Linked Data
ClinVar Variation Id:
823349
ClinVar RCV Id:
RCV001019524
dbSNP Id:
rs202147731
gnomAD v3:
1-241504191-G-A
gnomAD v4:
1-241504191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241504191G>A , CM000663.2:g.241504191G>A | GRCh38 |
| NC_000001.10:g.241667491G>A , CM000663.1:g.241667491G>A | GRCh37 |
| NC_000001.9:g.239734114G>A | NCBI36 |
| NG_012338.1:g.20564C>T , LRG_504:g.20564C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1462C>T | ||
| ENST00000682162.1:c.988C>T | ENSP00000508203.1:n.988C>T | |
| ENST00000682567.1:n.1036C>T | ||
| ENST00000683521.1:c.959C>T | ENSP00000506864.1:p.Ala320Val | |
| ENST00000684161.1:n.2174C>T | ||
| ENST00000684483.1:c.*355C>T | ENSP00000507894.1:n.*355C>T | |
| ENST00000366560.4:c.959C>T MANE Select | ENSP00000355518.4:p.Ala320Val | |
| ENST00000366560.3:c.959C>T | ENSP00000355518.3:p.Ala320Val | |
| NM_000143.3:c.959C>T , LRG_504t1:c.959C>T | NP_000134.2:p.Ala320Val | |
| XM_011544132.1:c.731C>T | XP_011542434.1:p.Ala244Val | |
| XM_011544132.2:c.731C>T | XP_011542434.1:p.Ala244Val | |
| NM_000143.4:c.959C>T MANE Select | NP_000134.2:p.Ala320Val |