Linked Data
ClinVar Variation Id:
3084581
ClinVar RCV Id:
RCV004381444
dbSNP Id:
rs782689807
ExAC:
7:73097297 C / A
gnomAD v2:
7-73097297-C-A
gnomAD v3:
7-73682967-C-A
gnomAD v4:
7-73682967-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73682967C>A , CM000669.2:g.73682967C>A | GRCh38 |
| NC_000007.13:g.73097297C>A , CM000669.1:g.73097297C>A | GRCh37 |
| NC_000007.12:g.72735233C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.457G>T MANE Select | ENSP00000378605.1:p.Ala153Ser | |
| ENST00000395176.2:c.457G>T | ENSP00000378605.1:p.Ala153Ser | |
| NM_032317.2:c.457G>T | NP_115693.2:p.Ala153Ser | |
| NM_032317.3:c.457G>T MANE Select | NP_115693.2:p.Ala153Ser |