Linked Data
ClinVar Variation Id:
2125973
ClinVar RCV Id:
RCV003049841
dbSNP Id:
rs374879431
gnomAD v3:
8-10622778-A-T
gnomAD v4:
8-10622778-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622778A>T , CM000670.2:g.10622778A>T | GRCh38 |
| NC_000008.10:g.10480288A>T , CM000670.1:g.10480288A>T | GRCh37 |
| NC_000008.9:g.10517698A>T | NCBI36 |
| NG_028035.1:g.37330T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.424T>A MANE Select | ENSP00000371923.3:p.Ser142Thr | |
| ENST00000329335.3:n.674T>A | ||
| ENST00000382483.3:c.424T>A | ENSP00000371923.3:p.Ser142Thr | |
| NM_178857.5:c.424T>A | NP_849188.4:p.Ser142Thr | |
| NM_178857.6:c.424T>A MANE Select | NP_849188.4:p.Ser142Thr |