Linked Data
ClinVar Variation Id:
460374
dbSNP Id:
rs1384151924
gnomAD v3:
1-241508657-G-A
gnomAD v4:
1-241508657-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241508657G>A , CM000663.2:g.241508657G>A | GRCh38 |
| NC_000001.10:g.241671957G>A , CM000663.1:g.241671957G>A | GRCh37 |
| NC_000001.9:g.239738580G>A | NCBI36 |
| NG_012338.1:g.16098C>T , LRG_504:g.16098C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1187C>T | ||
| ENST00000682162.1:c.713C>T | ENSP00000508203.1:n.713C>T | |
| ENST00000682567.1:n.761C>T | ||
| ENST00000683521.1:c.684C>T | ENSP00000506864.1:p.Ile228= | |
| ENST00000684161.1:n.1899C>T | ||
| ENST00000684483.1:c.*80C>T | ENSP00000507894.1:n.*80C>T | |
| ENST00000366560.4:c.684C>T MANE Select | ENSP00000355518.4:p.Ile228= | |
| ENST00000366560.3:c.684C>T | ENSP00000355518.3:p.Ile228= | |
| NM_000143.3:c.684C>T , LRG_504t1:c.684C>T | NP_000134.2:p.Ile228= | |
| XM_011544132.1:c.456C>T | XP_011542434.1:p.Ile152= | |
| XM_011544132.2:c.456C>T | XP_011542434.1:p.Ile152= | |
| NM_000143.4:c.684C>T MANE Select | NP_000134.2:p.Ile228= |