Linked Data
ClinVar Variation Id:
717536
ClinVar RCV Id:
RCV000890341
dbSNP Id:
rs566100696
ExAC:
1:1470829 C / T
gnomAD v2:
1-1470829-C-T
gnomAD v3:
1-1535449-C-T
gnomAD v4:
1-1535449-C-T
COSMIC:
COSM1600723
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535449C>T , CM000663.2:g.1535449C>T | GRCh38 |
| NC_000001.10:g.1470829C>T , CM000663.1:g.1470829C>T | GRCh37 |
| NC_000001.9:g.1460692C>T | NCBI36 |
| NG_041807.1:g.9912G>A | |
| NG_053035.1:g.28307C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.432G>A MANE Select | ENSP00000368007.4:p.Pro144= | |
| ENST00000378733.8:c.432G>A | ENSP00000368007.4:p.Pro144= | |
| ENST00000425828.1:c.432G>A | ENSP00000400311.1:p.Pro144= | |
| NM_001114748.1:c.432G>A | NP_001108220.1:p.Pro144= | |
| NM_001114748.2:c.432G>A MANE Select | NP_001108220.1:p.Pro144= |