Linked Data
ClinVar Variation Id:
3130399
ClinVar RCV Id:
RCV004420814
dbSNP Id:
rs1259799309
gnomAD v2:
13-108881661-C-T
gnomAD v3:
13-108229313-C-T
gnomAD v4:
13-108229313-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108229313C>T , CM000675.2:g.108229313C>T | GRCh38 |
| NC_000013.10:g.108881661C>T , CM000675.1:g.108881661C>T | GRCh37 |
| NC_000013.9:g.107679662C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375898.4:c.95C>T MANE Select | ENSP00000365063.3:p.Pro32Leu | |
| ENST00000375898.3:c.95C>T | ENSP00000365063.3:p.Pro32Leu | |
| NM_032859.2:c.95C>T | NP_116248.2:p.Pro32Leu | |
| XM_011521128.1:c.95C>T | XP_011519430.1:p.Pro32Leu | |
| XM_011521128.3:c.95C>T | XP_011519430.1:p.Pro32Leu | |
| NM_032859.3:c.95C>T MANE Select | NP_116248.2:p.Pro32Leu |