Linked Data
ClinVar Variation Id:
1379338
dbSNP Id:
rs1307815197
gnomAD v2:
1-241675340-G-A
gnomAD v4:
1-241512040-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241512040G>A , CM000663.2:g.241512040G>A | GRCh38 |
| NC_000001.10:g.241675340G>A , CM000663.1:g.241675340G>A | GRCh37 |
| NC_000001.9:g.239741963G>A | NCBI36 |
| NG_012338.1:g.12715C>T , LRG_504:g.12715C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.985C>T | ||
| ENST00000682162.1:c.511C>T | ENSP00000508203.1:n.511C>T | |
| ENST00000682567.1:n.559C>T | ||
| ENST00000683521.1:c.482C>T | ENSP00000506864.1:p.Ala161Val | |
| ENST00000684483.1:c.482C>T | ENSP00000507894.1:p.Ala161Val | |
| ENST00000366560.4:c.482C>T MANE Select | ENSP00000355518.4:p.Ala161Val | |
| ENST00000366560.3:c.482C>T | ENSP00000355518.3:p.Ala161Val | |
| ENST00000497042.1:n.178C>T | ||
| NM_000143.3:c.482C>T , LRG_504t1:c.482C>T | NP_000134.2:p.Ala161Val | |
| XM_011544132.1:c.254C>T | XP_011542434.1:p.Ala85Val | |
| XM_011544132.2:c.254C>T | XP_011542434.1:p.Ala85Val | |
| NM_000143.4:c.482C>T MANE Select | NP_000134.2:p.Ala161Val |