Linked Data
ClinVar Variation Id:
221921
dbSNP Id:
rs200221425
ExAC:
4:126237697 A / C
gnomAD v2:
4-126237697-A-C
gnomAD v3:
4-125316542-A-C
gnomAD v4:
4-125316542-A-C
PubMed:
PMID:26893459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125316542A>C , CM000666.2:g.125316542A>C | GRCh38 |
| NC_000004.11:g.126237697A>C , CM000666.1:g.126237697A>C | GRCh37 |
| NC_000004.10:g.126457147A>C | NCBI36 |
| NG_033865.1:g.5131A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394329.9:c.131A>C MANE Select | ENSP00000377862.4:p.Glu44Ala | |
| ENST00000674496.2:c.-55+565A>C | ENSP00000501473.2:n.-55+565A>C | |
| ENST00000394329.7:c.131A>C | ENSP00000377862.3:p.Glu44Ala | |
| NM_001291285.1:c.131A>C | NP_001278214.1:p.Glu44Ala | |
| NM_001291303.1:c.131A>C | NP_001278232.1:p.Glu44Ala | |
| NM_024582.4:c.131A>C | NP_078858.4:p.Glu44Ala | |
| XM_011532236.1:c.131A>C | XP_011530538.1:p.Glu44Ala | |
| XM_011532237.1:c.-55+565A>C | XP_011530539.1:n.-55+565A>C | |
| XM_011532236.2:c.131A>C | XP_011530538.1:p.Glu44Ala | |
| XM_011532237.2:c.-55+565A>C | XP_011530539.1:n.-55+565A>C | |
| NM_001291285.2:c.131A>C | NP_001278214.1:p.Glu44Ala | |
| NM_001291303.3:c.131A>C MANE Select | NP_001278232.1:p.Glu44Ala | |
| NM_024582.5:c.131A>C | NP_078858.4:p.Glu44Ala | |
| NM_001291285.3:c.131A>C | NP_001278214.1:p.Glu44Ala | |
| NM_024582.6:c.131A>C | NP_078858.4:p.Glu44Ala |