Linked Data
ClinVar Variation Id:
321996
ClinVar RCV Id:
RCV000327436
dbSNP Id:
rs541151948
gnomAD v3:
17-1761968-C-T
gnomAD v4:
17-1761968-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1761968C>T , CM000679.2:g.1761968C>T | GRCh38 |
| NC_000017.10:g.1665262C>T , CM000679.1:g.1665262C>T | GRCh37 |
| NC_000017.9:g.1612012C>T | NCBI36 |
| NG_028180.1:g.5004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254722.8:c.-154C>T | ENSP00000254722.4:n.-154C>T | |
| NM_002615.5:c.-154C>T | NP_002606.3:n.-154C>T | |
| NM_001329904.1:c.-623C>T | NP_001316833.1:n.-623C>T | |
| NM_002615.6:c.-154C>T | NP_002606.3:n.-154C>T |