Linked Data
ClinVar Variation Id:
310790
ClinVar RCV Id:
RCV000351689
dbSNP Id:
rs774325459
gnomAD v4:
12-98593625-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.98593625G>C , CM000674.2:g.98593625G>C | GRCh38 |
| NC_000012.11:g.98987403G>C , CM000674.1:g.98987403G>C | GRCh37 |
| NC_000012.10:g.97511534G>C | NCBI36 |
| NG_011702.1:g.5001G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000188376.9:c.-354G>C | ENSP00000188376.5:n.-354G>C | |
| ENST00000228318.7:c.-120G>C | ENSP00000228318.3:n.-120G>C | |
| ENST00000401722.7:c.-116G>C | ENSP00000383898.3:n.-116G>C | |
| NM_002635.3:c.-120G>C | NP_002626.1:n.-120G>C | |
| NM_005888.3:c.-120G>C | NP_005879.1:n.-120G>C | |
| NM_213611.2:c.-354G>C | NP_998776.1:n.-354G>C |