Linked Data
ClinVar Variation Id:
439599
ClinVar RCV Id:
RCV001662506
dbSNP Id:
rs61746477
ExAC:
1:223116240 G / A
gnomAD v2:
1-223116240-G-A
gnomAD v3:
1-222942898-G-A
gnomAD v4:
1-222942898-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.222942898G>A , CM000663.2:g.222942898G>A | GRCh38 |
| NC_000001.10:g.223116240G>A , CM000663.1:g.223116240G>A | GRCh37 |
| NC_000001.9:g.221182863G>A | NCBI36 |
| NG_009243.2:g.132810G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495684.2:n.163-40182G>A | ||
| ENST00000674709.1:c.75G>A | ENSP00000502092.1:p.Pro25= | |
| ENST00000674736.1:c.75G>A | ENSP00000501873.1:p.Pro25= | |
| ENST00000675039.1:c.75G>A | ENSP00000501574.1:p.Pro25= | |
| ENST00000675850.1:c.75G>A MANE Select | ENSP00000502357.1:p.Pro25= | |
| ENST00000675961.1:c.75G>A | ENSP00000501808.1:p.Pro25= | |
| ENST00000676139.1:c.75G>A | ENSP00000502496.1:p.Pro25= | |
| ENST00000676303.1:n.262G>A | ||
| ENST00000284476.7:c.75G>A | ENSP00000284476.6:p.Pro25= | |
| ENST00000360254.3:n.395G>A | ||
| ENST00000482856.1:n.222G>A | ||
| NM_032890.3:c.75G>A | NP_116279.2:p.Pro25= | |
| XM_005273335.1:c.75G>A | XP_005273392.1:p.Pro25= | |
| XM_006711592.1:c.75G>A | XP_006711655.1:p.Pro25= | |
| XM_011510072.1:c.75G>A | XP_011508374.1:p.Pro25= | |
| XM_011510073.1:c.75G>A | XP_011508375.1:p.Pro25= | |
| XM_011510074.1:c.75G>A | XP_011508376.1:p.Pro25= | |
| XM_011510075.1:c.75G>A | XP_011508377.1:p.Pro25= | |
| XM_011510076.1:c.75G>A | XP_011508378.1:p.Pro25= | |
| XM_011510077.1:c.75G>A | XP_011508379.1:p.Pro25= | |
| NM_001350630.1:c.-813G>A | NP_001337559.1:n.-813G>A | |
| NM_032890.4:c.75G>A | NP_116279.2:p.Pro25= | |
| XM_005273335.2:c.75G>A | XP_005273392.1:p.Pro25= | |
| XM_006711592.2:c.75G>A | XP_006711655.1:p.Pro25= | |
| XM_011510072.2:c.75G>A | XP_011508374.1:p.Pro25= | |
| XM_011510073.2:c.75G>A | XP_011508375.1:p.Pro25= | |
| XM_011510074.2:c.75G>A | XP_011508376.1:p.Pro25= | |
| XM_011510075.2:c.75G>A | XP_011508377.1:p.Pro25= | |
| XM_011510077.2:c.75G>A | XP_011508379.1:p.Pro25= | |
| XM_017002611.1:c.75G>A | XP_016858100.1:p.Pro25= | |
| NM_001350630.2:c.-813G>A | NP_001337559.1:n.-813G>A | |
| NM_001369594.1:c.75G>A | NP_001356523.1:p.Pro25= | |
| NM_001377228.1:c.75G>A | NP_001364157.1:p.Pro25= | |
| NM_001377229.1:c.75G>A MANE Select | NP_001364158.1:p.Pro25= | |
| NM_032890.5:c.75G>A | NP_116279.2:p.Pro25= |