Linked Data
ClinVar Variation Id:
883910
ClinVar RCV Id:
RCV001114689
dbSNP Id:
rs145144129
ExAC:
12:21329805 G / C
gnomAD v2:
12-21329805-G-C
gnomAD v3:
12-21176871-G-C
gnomAD v4:
12-21176871-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176871G>C , CM000674.2:g.21176871G>C | GRCh38 |
| NC_000012.11:g.21329805G>C , CM000674.1:g.21329805G>C | GRCh37 |
| NC_000012.10:g.21221072G>C | NCBI36 |
| NG_011745.1:g.50678G>C , LRG_1022:g.50678G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.455G>C MANE Select | ENSP00000256958.2:p.Arg152Thr | |
| ENST00000256958.2:c.455G>C | ENSP00000256958.2:p.Arg152Thr | |
| ENST00000543498.5:c.521G>C | ||
| NM_006446.4:c.455G>C , LRG_1022t1:c.455G>C | NP_006437.3:p.Arg152Thr | |
| NM_006446.5:c.455G>C MANE Select | NP_006437.3:p.Arg152Thr |