Linked Data
ClinVar Variation Id:
1529835
ClinVar RCV Id:
RCV002089422
dbSNP Id:
rs17046554
ExAC:
4:166416793 A / C
gnomAD v2:
4-166416793-A-C
gnomAD v3:
4-165495641-A-C
gnomAD v4:
4-165495641-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.165495641A>C , CM000666.2:g.165495641A>C | GRCh38 |
| NC_000004.11:g.166416793A>C , CM000666.1:g.166416793A>C | GRCh37 |
| NC_000004.10:g.166636243A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402744.9:c.1296A>C MANE Select | ENSP00000386104.4:p.Thr432= | |
| ENST00000402744.8:c.1296A>C | ENSP00000386104.4:p.Thr432= | |
| NM_001873.2:c.1296A>C | NP_001864.1:p.Thr432= | |
| NM_001873.3:c.1296A>C | NP_001864.1:p.Thr432= | |
| NM_001873.4:c.1296A>C MANE Select | NP_001864.1:p.Thr432= |