Linked Data
ClinVar Variation Id:
177873
dbSNP Id:
rs369181536
ExAC:
1:201330453 G / A
gnomAD v2:
1-201330453-G-A
gnomAD v4:
1-201361325-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201361325G>A , CM000663.2:g.201361325G>A | GRCh38 |
| NC_000001.10:g.201330453G>A , CM000663.1:g.201330453G>A | GRCh37 |
| NC_000001.9:g.199597076G>A | NCBI36 |
| NG_007556.1:g.21353C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455702.7:c.749C>T | ENSP00000402238.3:p.Ala250Val | |
| ENST00000367318.10:c.734C>T | ENSP00000356287.5:p.Ala245Val | |
| ENST00000367322.6:c.722C>T | ENSP00000356291.2:p.Ala241Val | |
| ENST00000412633.3:c.725C>T | ENSP00000408731.2:p.Ala242Val | |
| ENST00000422165.6:c.755C>T | ENSP00000395163.2:p.Ala252Val | |
| ENST00000438742.6:c.713C>T | ENSP00000414036.2:p.Ala238Val | |
| ENST00000455702.6:c.749C>T | ENSP00000402238.2:p.Ala250Val | |
| ENST00000651504.1:n.1225C>T | ||
| ENST00000656932.1:c.764C>T MANE Select | ENSP00000499593.1:p.Ala255Val | |
| ENST00000658476.1:c.734C>T | ENSP00000499741.1:p.Ala245Val | |
| ENST00000660295.1:c.734C>T | ENSP00000499418.1:p.Ala245Val | |
| ENST00000662159.1:c.*123C>T | ENSP00000499796.1:n.*123C>T | |
| ENST00000663843.1:c.*664C>T | ENSP00000499590.1:n.*664C>T | |
| ENST00000666449.1:c.*9C>T | ENSP00000499667.1:n.*9C>T | |
| ENST00000236918.11:c.764C>T | ENSP00000236918.8:p.Ala255Val | |
| ENST00000360372.8:c.635C>T | ENSP00000353535.5:p.Ala212Val | |
| ENST00000367315.6:c.743C>T | ENSP00000356284.3:p.Ala248Val | |
| ENST00000367317.8:c.716C>T | ENSP00000356286.5:p.Ala239Val | |
| ENST00000367318.9:c.734C>T | ENSP00000356287.5:p.Ala245Val | |
| ENST00000367320.6:c.635C>T | ENSP00000356289.2:p.Ala212Val | |
| ENST00000367322.5:c.725C>T | ENSP00000356291.1:p.Ala242Val | |
| ENST00000421663.6:c.548C>T | ENSP00000404134.3:p.Ala183Val | |
| ENST00000438742.5:c.716C>T | ENSP00000414036.1:p.Ala239Val | |
| ENST00000458432.6:c.548C>T | ENSP00000387874.3:p.Ala183Val | |
| ENST00000460780.5:n.1057C>T | ||
| ENST00000476888.5:n.181C>T | ||
| ENST00000477035.1:n.33C>T | ||
| ENST00000491504.5:n.1973C>T | ||
| ENST00000509001.5:c.734C>T | ENSP00000422031.1:p.Ala245Val | |
| ENST00000515042.5:n.660C>T | ||
| NM_000364.3:c.755C>T | NP_000355.2:p.Ala252Val | |
| NM_001001430.2:c.734C>T | NP_001001430.1:p.Ala245Val | |
| NM_001001431.2:c.725C>T | NP_001001431.1:p.Ala242Val | |
| NM_001001432.2:c.716C>T | NP_001001432.1:p.Ala239Val | |
| NM_001276345.1:c.764C>T | NP_001263274.1:p.Ala255Val | |
| NM_001276346.1:c.635C>T | NP_001263275.1:p.Ala212Val | |
| NM_001276347.1:c.734C>T | NP_001263276.1:p.Ala245Val | |
| XM_006711508.2:c.734C>T | XP_006711571.1:p.Ala245Val | |
| XM_006711509.2:c.731C>T | XP_006711572.1:p.Ala244Val | |
| XM_011509938.1:c.764C>T | XP_011508240.1:p.Ala255Val | |
| XM_011509939.1:c.761C>T | XP_011508241.1:p.Ala254Val | |
| XM_011509940.1:c.761C>T | XP_011508242.1:p.Ala254Val | |
| XM_011509941.1:c.758C>T | XP_011508243.1:p.Ala253Val | |
| XM_011509942.1:c.719C>T | XP_011508244.1:p.Ala240Val | |
| XM_011509943.1:c.719C>T | XP_011508245.1:p.Ala240Val | |
| XM_011509944.1:c.716C>T | XP_011508246.1:p.Ala239Val | |
| XM_011509946.1:c.557C>T | XP_011508248.1:p.Ala186Val | |
| XM_006711508.3:c.734C>T | XP_006711571.1:p.Ala245Val | |
| XM_006711509.3:c.731C>T | XP_006711572.1:p.Ala244Val | |
| XM_011509938.2:c.764C>T | XP_011508240.1:p.Ala255Val | |
| XM_011509940.2:c.761C>T | XP_011508242.1:p.Ala254Val | |
| XM_011509941.2:c.758C>T | XP_011508243.1:p.Ala253Val | |
| XM_011509942.2:c.719C>T | XP_011508244.1:p.Ala240Val | |
| XM_011509943.2:c.719C>T | XP_011508245.1:p.Ala240Val | |
| XM_011509944.2:c.716C>T | XP_011508246.1:p.Ala239Val | |
| XM_017002216.2:c.731C>T | XP_016857705.1:p.Ala244Val | |
| XM_017002217.1:c.725C>T | XP_016857706.1:p.Ala242Val | |
| XM_024449450.1:c.764C>T | XP_024305218.1:p.Ala255Val | |
| XM_024449454.1:c.731C>T | XP_024305222.1:p.Ala244Val | |
| XM_024449455.1:c.731C>T | XP_024305223.1:p.Ala244Val | |
| NM_000364.4:c.755C>T | NP_000355.2:p.Ala252Val | |
| NM_001001430.3:c.734C>T | NP_001001430.1:p.Ala245Val | |
| NM_001001431.3:c.725C>T | NP_001001431.1:p.Ala242Val | |
| NM_001001432.3:c.716C>T | NP_001001432.1:p.Ala239Val | |
| NM_001276345.2:c.764C>T MANE Select | NP_001263274.1:p.Ala255Val | |
| NM_001276346.2:c.635C>T | NP_001263275.1:p.Ala212Val | |
| NM_001276347.2:c.734C>T | NP_001263276.1:p.Ala245Val |