Linked Data
ClinVar Variation Id:
808310
ClinVar RCV Id:
RCV000996599
dbSNP Id:
rs781997214
ExAC:
17:62492632 G / C
gnomAD v2:
17-62492632-G-C
gnomAD v4:
17-64496514-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.64496514G>C , CM000679.2:g.64496514G>C | GRCh38 |
| NC_000017.10:g.62492632G>C , CM000679.1:g.62492632G>C | GRCh37 |
| NC_000017.9:g.59923094G>C | NCBI36 |
| NG_013029.1:g.5553C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539111.7:c.455C>G MANE Select | ENSP00000442563.2:p.Thr152Ser | |
| ENST00000585104.2:n.426C>G | ||
| ENST00000671755.1:c.426C>G | ||
| ENST00000673460.1:c.426C>G | ||
| ENST00000539111.6:c.455C>G | ENSP00000442563.2:p.Thr152Ser | |
| ENST00000578997.1:c.224+18C>G | ENSP00000464389.1:n.224+18C>G | |
| ENST00000585141.5:n.506C>G | ||
| NM_007215.3:c.455C>G | NP_009146.2:p.Thr152Ser | |
| XM_006721651.2:c.455C>G | XP_006721714.1:p.Thr152Ser | |
| XR_243630.1:n.506C>G | ||
| XR_934357.1:n.506C>G | ||
| XR_934358.1:n.506C>G | ||
| NM_007215.4:c.455C>G MANE Select | NP_009146.2:p.Thr152Ser |