Linked Data
ClinVar Variation Id:
469581
ClinVar RCV Id:
RCV000532173
dbSNP Id:
rs752143941
ExAC:
12:5154352 C / T
gnomAD v2:
12-5154352-C-T
gnomAD v3:
12-5045186-C-T
gnomAD v4:
12-5045186-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045186C>T , CM000674.2:g.5045186C>T | GRCh38 |
| NC_000012.11:g.5154352C>T , CM000674.1:g.5154352C>T | GRCh37 |
| NC_000012.10:g.5024613C>T | NCBI36 |
| NG_012198.1:g.6268C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.1039C>T MANE Select | ENSP00000252321.3:p.Pro347Ser | |
| ENST00000252321.4:c.1039C>T | ENSP00000252321.3:p.Pro347Ser | |
| NM_002234.3:c.1039C>T | NP_002225.2:p.Pro347Ser | |
| NM_002234.4:c.1039C>T MANE Select | NP_002225.2:p.Pro347Ser |