Linked Data
ClinVar Variation Id:
2467478
ClinVar RCV Id:
RCV004258755
dbSNP Id:
rs371023882
ExAC:
6:151936727 A / C
gnomAD v2:
6-151936727-A-C
gnomAD v3:
6-151615592-A-C
gnomAD v4:
6-151615592-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151615592A>C , CM000668.2:g.151615592A>C | GRCh38 |
| NC_000006.11:g.151936727A>C , CM000668.1:g.151936727A>C | GRCh37 |
| NC_000006.10:g.151978420A>C | NCBI36 |
| NG_021198.1:g.126553A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.1860A>C MANE Select | ENSP00000239374.6:p.Glu620Asp | |
| ENST00000239374.7:c.1860A>C | ENSP00000239374.6:p.Glu620Asp | |
| NM_025059.3:c.1860A>C | NP_079335.2:p.Glu620Asp | |
| XM_011536147.1:c.1878A>C | XP_011534449.1:p.Glu626Asp | |
| XM_011536148.1:c.1677A>C | XP_011534450.1:p.Glu559Asp | |
| XM_011536147.2:c.1878A>C | XP_011534449.1:p.Glu626Asp | |
| XM_011536148.2:c.1677A>C | XP_011534450.1:p.Glu559Asp | |
| XR_001743865.1:n.129+1129T>G | ||
| NM_025059.4:c.1860A>C MANE Select | NP_079335.2:p.Glu620Asp |