Linked Data
ClinVar Variation Id:
440209
dbSNP Id:
rs200188483
ExAC:
15:77328272 C / T
gnomAD v2:
15-77328272-C-T
gnomAD v3:
15-77035931-C-T
gnomAD v4:
15-77035931-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77035931C>T , CM000677.2:g.77035931C>T | GRCh38 |
| NC_000015.9:g.77328272C>T , CM000677.1:g.77328272C>T | GRCh37 |
| NC_000015.8:g.75115327C>T | NCBI36 |
| NG_007526.1:g.45808C>T , LRG_172:g.45808C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697622.1:n.2281C>T | ||
| ENST00000697623.1:n.2534C>T | ||
| ENST00000558012.6:c.1115C>T MANE Select | ENSP00000452746.1:p.Ala372Val | |
| ENST00000379595.7:c.1106C>T | ENSP00000368914.3:p.Ala369Val | |
| ENST00000557995.1:n.779C>T | ||
| ENST00000558012.5:c.1115C>T | ENSP00000452746.1:p.Ala372Val | |
| ENST00000558870.1:c.264C>T | ||
| ENST00000559295.5:c.1058C>T | ENSP00000452743.1:p.Ala353Val | |
| ENST00000559785.5:c.*90C>T | ENSP00000452986.1:n.*90C>T | |
| ENST00000560064.1:n.238C>T | ||
| ENST00000560223.5:c.*1217C>T | ENSP00000454118.1:n.*1217C>T | |
| NM_003978.3:c.1115C>T , LRG_172t1:c.1115C>T | NP_003969.2:p.Ala372Val | |
| XM_006720737.2:c.749C>T | XP_006720800.1:p.Ala250Val | |
| XM_011522163.1:c.1163C>T | XP_011520465.1:p.Ala388Val | |
| XM_011522164.1:c.1070C>T | XP_011520466.1:p.Ala357Val | |
| XM_011522165.1:c.968C>T | XP_011520467.1:p.Ala323Val | |
| XM_011522168.1:c.1172C>T | XP_011520470.1:p.Ala391Val | |
| XM_011522170.1:c.557C>T | XP_011520472.1:p.Ala186Val | |
| XM_011522171.1:c.497C>T | XP_011520473.1:p.Ala166Val | |
| XM_011522172.1:c.497C>T | XP_011520474.1:p.Ala166Val | |
| XM_011522173.1:c.497C>T | XP_011520475.1:p.Ala166Val | |
| XR_931936.1:n.1656C>T | ||
| XR_931937.1:n.1599C>T | ||
| XR_931938.1:n.1531C>T | ||
| XR_931939.1:n.1434C>T | ||
| XR_931940.1:n.1255C>T | ||
| NM_001321135.1:c.1058C>T | NP_001308064.1:p.Ala353Val | |
| NM_001321136.1:c.1088C>T | NP_001308065.1:p.Ala363Val | |
| NM_001321137.1:c.1310C>T | NP_001308066.1:p.Ala437Val | |
| NM_003978.4:c.1115C>T | NP_003969.2:p.Ala372Val | |
| NR_135552.1:n.1336C>T | ||
| XM_006720737.3:c.749C>T | XP_006720800.1:p.Ala250Val | |
| XM_011522163.2:c.1163C>T | XP_011520465.1:p.Ala388Val | |
| XM_011522165.2:c.968C>T | XP_011520467.1:p.Ala323Val | |
| XM_011522168.3:c.1172C>T | XP_011520470.1:p.Ala391Val | |
| XR_931936.2:n.1654C>T | ||
| XR_931937.2:n.1597C>T | ||
| XR_931938.2:n.1529C>T | ||
| XR_931939.2:n.1432C>T | ||
| NM_001321135.2:c.1058C>T | NP_001308064.1:p.Ala353Val | |
| NM_001321136.2:c.1088C>T | NP_001308065.1:p.Ala363Val | |
| NM_003978.5:c.1115C>T MANE Select | NP_003969.2:p.Ala372Val | |
| NR_135552.2:n.1295C>T |