Linked Data
ClinVar Variation Id:
717656
ClinVar RCV Id:
RCV000890483
dbSNP Id:
rs200754367
ExAC:
10:72020461 G / A
gnomAD v2:
10-72020461-G-A
gnomAD v3:
10-70260705-G-A
gnomAD v4:
10-70260705-G-A
MyVariant Identifiers:
chr10:g.72020461G>A (hg19)
chr10:g.72020461_72020462delinsAC (hg19)
chr10:g.70260705G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70260705G>A , CM000672.2:g.70260705G>A | GRCh38 |
| NC_000010.10:g.72020461G>A , CM000672.1:g.72020461G>A | GRCh37 |
| NC_000010.9:g.71690467G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000277942.7:c.357C>T MANE Select | ENSP00000277942.5:p.Ser119= | |
| ENST00000277942.6:c.357C>T | ENSP00000277942.5:p.Ser119= | |
| NM_022146.4:c.357C>T | NP_071429.1:p.Ser119= | |
| NM_022146.5:c.357C>T MANE Select | NP_071429.1:p.Ser119= |