Linked Data
ClinVar Variation Id:
728644
ClinVar RCV Id:
RCV000903166
dbSNP Id:
rs77246487
ExAC:
2:130910329 G / A
gnomAD v2:
2-130910329-G-A
gnomAD v3:
2-130152756-G-A
gnomAD v4:
2-130152756-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.130152756G>A , CM000664.2:g.130152756G>A | GRCh38 |
| NC_000002.11:g.130910329G>A , CM000664.1:g.130910329G>A | GRCh37 |
| NC_000002.10:g.130626799G>A | NCBI36 |
| NG_053070.1:g.34995C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680298.1:c.2283C>T MANE Select | ENSP00000506463.1:p.Ala761= | |
| ENST00000680401.1:c.1086C>T | ENSP00000506367.1:p.Ala362= | |
| ENST00000680679.1:c.2334C>T | ENSP00000505716.1:p.Ala778= | |
| ENST00000680810.1:c.*1045C>T | ENSP00000505271.1:n.*1045C>T | |
| ENST00000680987.1:c.*1390C>T | ENSP00000506346.1:n.*1390C>T | |
| ENST00000351288.10:c.2313C>T | ENSP00000259217.8:p.Ala771= | |
| ENST00000409031.5:c.2400C>T | ENSP00000386531.1:p.Ala800= | |
| ENST00000412570.5:c.*1970C>T | ENSP00000403002.1:n.*1970C>T | |
| ENST00000431183.6:c.2094C>T | ENSP00000405187.2:p.Ala698= | |
| ENST00000433118.5:c.*1701C>T | ENSP00000397278.1:n.*1701C>T | |
| ENST00000439886.5:c.2024C>T | ||
| ENST00000454468.5:c.*1987C>T | ENSP00000407591.1:n.*1987C>T | |
| ENST00000457039.6:c.930C>T | ENSP00000397078.2:p.Ala310= | |
| ENST00000482171.5:n.2951C>T | ||
| ENST00000491128.5:n.1223C>T | ||
| NM_001171083.2:c.2094C>T | NP_001164554.1:p.Ala698= | |
| NM_017751.4:c.2313C>T | NP_060221.2:p.Ala771= | |
| NM_017951.4:c.2400C>T | NP_060421.2:p.Ala800= | |
| NR_033230.2:n.3549C>T | ||
| NR_033231.2:n.2413C>T | ||
| NR_033232.2:n.2393C>T | ||
| XM_011511443.1:c.2634C>T | XP_011509745.1:p.Ala878= | |
| XM_011511444.1:c.2547C>T | XP_011509746.1:p.Ala849= | |
| XM_011511445.1:c.2007C>T | XP_011509747.1:p.Ala669= | |
| XM_011511443.2:c.2634C>T | XP_011509745.1:p.Ala878= | |
| XM_011511444.3:c.2547C>T | XP_011509746.1:p.Ala849= | |
| XM_011511445.2:c.2007C>T | XP_011509747.1:p.Ala669= | |
| XM_017004448.2:c.1623C>T | XP_016859937.1:p.Ala541= | |
| XM_017004449.2:c.1086C>T | XP_016859938.1:p.Ala362= | |
| XM_024452978.1:c.1623C>T | XP_024308746.1:p.Ala541= | |
| NR_033231.3:n.2258C>T | ||
| NR_033232.3:n.2238C>T | ||
| NM_017951.5:c.2283C>T MANE Select | NP_060421.3:p.Ala761= |