Linked Data
ClinVar Variation Id:
1202
ClinVar RCV Id:
RCV000001261
dbSNP Id:
rs118204001
ExAC:
10:82034395 A / C
gnomAD v2:
10-82034395-A-C
gnomAD v3:
10-80274639-A-C
gnomAD v4:
10-80274639-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80274639A>C , CM000672.2:g.80274639A>C | GRCh38 |
| NC_000010.10:g.82034395A>C , CM000672.1:g.82034395A>C | GRCh37 |
| NC_000010.9:g.82024375A>C | NCBI36 |
| NG_008083.1:g.20040T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372213.8:c.966T>G MANE Select | ENSP00000361287.3:p.Ile322Met | |
| ENST00000372213.7:c.966T>G | ENSP00000361287.3:p.Ile322Met | |
| ENST00000480845.1:n.198T>G | ||
| ENST00000485270.5:n.478T>G | ||
| NM_000429.2:c.966T>G | NP_000420.1:p.Ile322Met | |
| XM_005269842.3:c.966T>G | XP_005269899.1:p.Ile322Met | |
| XM_005269843.3:c.843T>G | XP_005269900.1:p.Ile281Met | |
| NM_000429.3:c.966T>G MANE Select | NP_000420.1:p.Ile322Met |