Linked Data
ClinVar Variation Id:
1979840
ClinVar RCV Id:
RCV002756167
dbSNP Id:
rs1016438334
gnomAD v3:
14-23433645-G-T
gnomAD v4:
14-23433645-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23433645G>T , CM000676.2:g.23433645G>T | GRCh38 |
| NC_000014.8:g.23902854G>T , CM000676.1:g.23902854G>T | GRCh37 |
| NC_000014.7:g.22972694G>T | NCBI36 |
| NG_007884.1:g.7017C>A , LRG_384:g.7017C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.88C>A MANE Select | ENSP00000347507.3:p.Pro30Thr | |
| ENST00000355349.3:c.88C>A | ENSP00000347507.3:p.Pro30Thr | |
| NM_000257.3:c.88C>A | NP_000248.2:p.Pro30Thr | |
| XR_245686.3:n.194C>A | ||
| XM_017021340.1:c.88C>A | XP_016876829.1:p.Pro30Thr | |
| NM_000257.4:c.88C>A MANE Select | NP_000248.2:p.Pro30Thr |