Linked Data
ClinVar Variation Id:
2237767
ClinVar RCV Id:
RCV002724181
dbSNP Id:
rs987472805
gnomAD v4:
10-8058600-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8058600C>G , CM000672.2:g.8058600C>G | GRCh38 |
| NC_000010.10:g.8100563C>G , CM000672.1:g.8100563C>G | GRCh37 |
| NC_000010.9:g.8140569C>G | NCBI36 |
| NG_015859.1:g.8897C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.537C>G | ENSP00000341619.3:p.Asp179Glu | |
| ENST00000379328.9:c.537C>G MANE Select | ENSP00000368632.3:p.Asp179Glu | |
| ENST00000346208.3:c.537C>G | ENSP00000341619.3:p.Asp179Glu | |
| ENST00000379328.7:c.537C>G | ENSP00000368632.3:p.Asp179Glu | |
| ENST00000461472.1:n.202C>G | ||
| NM_001002295.1:c.537C>G | NP_001002295.1:p.Asp179Glu | |
| NM_002051.2:c.537C>G | NP_002042.1:p.Asp179Glu | |
| XM_005252442.2:c.537C>G | XP_005252499.1:p.Asp179Glu | |
| XM_005252443.3:c.537C>G | XP_005252500.1:p.Asp179Glu | |
| XM_005252443.5:c.537C>G | XP_005252500.1:p.Asp179Glu | |
| NM_001002295.2:c.537C>G MANE Select | NP_001002295.1:p.Asp179Glu | |
| NM_002051.3:c.537C>G | NP_002042.1:p.Asp179Glu |