Linked Data
ClinVar Variation Id:
30611
ClinVar RCV Id:
RCV000023585
dbSNP Id:
rs147442301
ExAC:
12:121164946 C / T
gnomAD v2:
12-121164946-C-T
gnomAD v3:
12-120727143-C-T
gnomAD v4:
12-120727143-C-T
PubMed:
PMID:20376488
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120727143C>T , CM000674.2:g.120727143C>T | GRCh38 |
| NC_000012.11:g.121164946C>T , CM000674.1:g.121164946C>T | GRCh37 |
| NC_000012.10:g.119649329C>T | NCBI36 |
| NG_007991.1:g.6376C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.164C>T MANE Select | ENSP00000242592.4:p.Pro55Leu | |
| ENST00000242592.8:c.164C>T | ENSP00000242592.4:p.Pro55Leu | |
| ENST00000411593.2:c.164C>T | ENSP00000401045.2:p.Pro55Leu | |
| ENST00000539690.1:n.276C>T | ||
| NM_000017.3:c.164C>T | NP_000008.1:p.Pro55Leu | |
| NM_001302554.1:c.164C>T | NP_001289483.1:p.Pro55Leu | |
| NM_000017.4:c.164C>T MANE Select | NP_000008.1:p.Pro55Leu | |
| NM_001302554.2:c.164C>T | NP_001289483.1:p.Pro55Leu |