Linked Data
ClinVar Variation Id:
350200
ClinVar RCV Id:
RCV000375954
dbSNP Id:
rs762605826
ExAC:
4:9836568 G / A
gnomAD v2:
4-9836568-G-A
gnomAD v4:
4-9834944-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.9834944G>A , CM000666.2:g.9834944G>A | GRCh38 |
| NC_000004.11:g.9836568G>A , CM000666.1:g.9836568G>A | GRCh37 |
| NC_000004.10:g.9445666G>A | NCBI36 |
| NG_011540.1:g.210305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264784.8:c.1356C>T MANE Select | ENSP00000264784.3:p.Ile452= | |
| ENST00000264784.7:c.1356C>T | ENSP00000264784.3:p.Ile452= | |
| ENST00000309065.7:c.1269C>T | ENSP00000311383.3:p.Ile423= | |
| ENST00000503280.5:n.176C>T | ||
| ENST00000503803.5:n.141C>T | ||
| ENST00000506583.5:c.1269C>T | ENSP00000422209.1:p.Ile423= | |
| ENST00000512342.5:n.141C>T | ||
| NM_001001290.1:c.1269C>T | NP_001001290.1:p.Ile423= | |
| NM_020041.2:c.1356C>T | NP_064425.2:p.Ile452= | |
| XM_006713968.2:c.1356C>T | XP_006714031.1:p.Ile452= | |
| XM_011513856.1:c.1356C>T | XP_011512158.1:p.Ile452= | |
| XM_011513857.1:c.1269C>T | XP_011512159.1:p.Ile423= | |
| XM_011513858.1:c.1269C>T | XP_011512160.1:p.Ile423= | |
| XM_011513859.1:c.1356C>T | XP_011512161.1:p.Ile452= | |
| XM_011513860.1:c.1356C>T | XP_011512162.1:p.Ile452= | |
| XM_011513861.1:c.1356C>T | XP_011512163.1:p.Ile452= | |
| XM_011513862.1:c.960C>T | XP_011512164.1:p.Ile320= | |
| XM_011513863.1:c.960C>T | XP_011512165.1:p.Ile320= | |
| XM_011513864.1:c.948C>T | XP_011512166.1:p.Ile316= | |
| XM_011513867.1:c.798C>T | XP_011512169.1:p.Ile266= | |
| XR_925341.1:n.1452C>T | ||
| XM_006713968.4:c.1356C>T | XP_006714031.1:p.Ile452= | |
| XM_011513856.3:c.1356C>T | XP_011512158.1:p.Ile452= | |
| XM_011513859.3:c.1356C>T | XP_011512161.1:p.Ile452= | |
| XM_011513860.3:c.1356C>T | XP_011512162.1:p.Ile452= | |
| XM_011513861.3:c.1356C>T | XP_011512163.1:p.Ile452= | |
| XM_011513862.3:c.960C>T | XP_011512164.1:p.Ile320= | |
| XM_011513864.2:c.948C>T | XP_011512166.1:p.Ile316= | |
| XM_011513867.3:c.798C>T | XP_011512169.1:p.Ile266= | |
| XM_017008457.2:c.1356C>T | XP_016863946.1:p.Ile452= | |
| XM_017008458.2:c.1356C>T | XP_016863947.1:p.Ile452= | |
| XM_017008459.1:c.894C>T | XP_016863948.1:p.Ile298= | |
| XM_017008460.2:c.960C>T | XP_016863949.1:p.Ile320= | |
| XM_024454151.1:c.969C>T | XP_024309919.1:p.Ile323= | |
| XR_001741290.1:n.1351C>T | ||
| XR_001741291.1:n.1351C>T | ||
| XR_925341.3:n.1533C>T | ||
| NM_020041.3:c.1356C>T MANE Select | NP_064425.2:p.Ile452= | |
| NM_001001290.2:c.1269C>T | NP_001001290.1:p.Ile423= |