Linked Data
ClinVar Variation Id:
781284
ClinVar RCV Id:
RCV000962500
dbSNP Id:
rs9913561
ExAC:
17:38145067 G / C
gnomAD v2:
17-38145067-G-C
gnomAD v3:
17-39988814-G-C
gnomAD v4:
17-39988814-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39988814G>C , CM000679.2:g.39988814G>C | GRCh38 |
| NC_000017.10:g.38145067G>C , CM000679.1:g.38145067G>C | GRCh37 |
| NC_000017.9:g.35398593G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264639.9:c.681G>C MANE Select | ENSP00000264639.4:p.Val227= | |
| ENST00000264639.8:c.681G>C | ENSP00000264639.4:p.Val227= | |
| ENST00000415039.7:c.*155G>C | ENSP00000407410.3:n.*155G>C | |
| ENST00000540504.2:c.236G>C | ||
| ENST00000580980.1:n.161G>C | ||
| NM_002809.3:c.681G>C | NP_002800.2:p.Val227= | |
| NM_002809.4:c.681G>C MANE Select | NP_002800.2:p.Val227= |