Linked Data
ClinVar Variation Id:
2872323
ClinVar RCV Id:
RCV003706005
dbSNP Id:
rs929517811
gnomAD v4:
1-109264492-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264492C>T , CM000663.2:g.109264492C>T | GRCh38 |
| NC_000001.10:g.109807114C>T , CM000663.1:g.109807114C>T | GRCh37 |
| NC_000001.9:g.109608637C>T | NCBI36 |
| NG_052669.1:g.19788C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5328C>T MANE Select | ENSP00000271332.3:p.Ser1776= | |
| ENST00000271332.3:c.5328C>T | ENSP00000271332.3:p.Ser1776= | |
| NM_001408.2:c.5328C>T | NP_001399.1:p.Ser1776= | |
| XM_005270580.3:c.5328C>T | XP_005270637.1:p.Ser1776= | |
| NM_001408.3:c.5328C>T MANE Select | NP_001399.1:p.Ser1776= |