Linked Data
ClinVar Variation Id:
1058024
ClinVar RCV Id:
RCV001367112
dbSNP Id:
rs748829798
ExAC:
17:42429122 C / G
gnomAD v2:
17-42429122-C-G
gnomAD v3:
17-44351754-C-G
gnomAD v4:
17-44351754-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44351754C>G , CM000679.2:g.44351754C>G | GRCh38 |
| NC_000017.10:g.42429122C>G , CM000679.1:g.42429122C>G | GRCh37 |
| NC_000017.9:g.39784648C>G | NCBI36 |
| NG_007886.1:g.11632C>G , LRG_661:g.11632C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1138C>G MANE Select | ENSP00000053867.2:p.Gln380Glu | |
| ENST00000639447.1:c.1136+2C>G | ENSP00000492014.1:n.1136+2C>G | |
| ENST00000053867.7:c.1138C>G | ENSP00000053867.2:p.Gln380Glu | |
| ENST00000586443.1:c.579C>G | ||
| ENST00000589265.5:c.667C>G | ENSP00000467616.1:p.Gln223Glu | |
| ENST00000589923.1:n.396C>G | ||
| NM_002087.3:c.1138C>G | NP_002078.1:p.Gln380Glu | |
| XM_005257253.1:c.1138C>G | XP_005257310.1:p.Gln380Glu | |
| XM_024450730.1:c.1138C>G | XP_024306498.1:p.Gln380Glu | |
| NM_002087.4:c.1138C>G MANE Select | NP_002078.1:p.Gln380Glu |