Linked Data
ClinVar Variation Id:
66188
ClinVar RCV Id:
RCV000056526
dbSNP Id:
rs267607412
ExAC:
17:39780437 T / C
gnomAD v2:
17-39780437-T-C
gnomAD v3:
17-41624185-T-C
gnomAD v4:
17-41624185-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624185T>C , CM000679.2:g.41624185T>C | GRCh38 |
| NC_000017.10:g.39780437T>C , CM000679.1:g.39780437T>C | GRCh37 |
| NC_000017.9:g.37033963T>C | NCBI36 |
| NG_008625.1:g.5446A>G | |
| NG_009090.2:g.167528A>G , LRG_401:g.167528A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.325A>G MANE Select | ENSP00000308452.8:p.Asn109Asp | |
| ENST00000311208.12:c.325A>G | ENSP00000308452.8:p.Asn109Asp | |
| ENST00000463128.5:c.-291A>G | ENSP00000468672.1:n.-291A>G | |
| ENST00000491673.1:n.391A>G | ||
| ENST00000493253.5:n.112A>G | ||
| ENST00000540235.5:c.76A>G | ENSP00000441751.2:p.Asn26Asp | |
| ENST00000577817.3:c.280A>G | ENSP00000467418.1:p.Asn94Asp | |
| NM_000422.2:c.325A>G | NP_000413.1:p.Asn109Asp | |
| NM_000422.3:c.325A>G MANE Select | NP_000413.1:p.Asn109Asp |