Linked Data
ClinVar Variation Id:
191641
dbSNP Id:
rs763921000
ExAC:
6:7583471 C / A
gnomAD v2:
6-7583471-C-A
gnomAD v4:
6-7583238-C-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7583238C>A , CM000668.2:g.7583238C>A | GRCh38 |
| NC_000006.11:g.7583471C>A , CM000668.1:g.7583471C>A | GRCh37 |
| NC_000006.10:g.7528470C>A | NCBI36 |
| NG_008803.1:g.46602C>A , LRG_423:g.46602C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4647C>A | ENSP00000518230.1:p.Asp1549Glu | |
| ENST00000379802.8:c.5976C>A MANE Select | ENSP00000369129.3:p.Asp1992Glu | |
| ENST00000379802.7:c.5976C>A | ENSP00000369129.3:p.Asp1992Glu | |
| ENST00000418664.2:c.4179C>A | ENSP00000396591.2:p.Asp1393Glu | |
| NM_001008844.1:c.4179C>A | NP_001008844.1:p.Asp1393Glu | |
| NM_004415.2:c.5976C>A , LRG_423t1:c.5976C>A | NP_004406.2:p.Asp1992Glu | |
| XM_011514323.1:c.4647C>A | XP_011512625.1:p.Asp1549Glu | |
| NM_001008844.2:c.4179C>A | NP_001008844.1:p.Asp1393Glu | |
| NM_001319034.1:c.4647C>A | NP_001305963.1:p.Asp1549Glu | |
| NM_004415.3:c.5976C>A | NP_004406.2:p.Asp1992Glu | |
| NM_004415.4:c.5976C>A MANE Select | NP_004406.2:p.Asp1992Glu | |
| NM_001008844.3:c.4179C>A | NP_001008844.1:p.Asp1393Glu | |
| NM_001319034.2:c.4647C>A | NP_001305963.1:p.Asp1549Glu |