Linked Data
ClinVar Variation Id:
39486
ClinVar RCV Id:
RCV001519689
dbSNP Id:
rs4426527
ExAC:
2:241817516 A / G
gnomAD v2:
2-241817516-A-G
gnomAD v3:
2-240878099-A-G
gnomAD v4:
2-240878099-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878099A>G , CM000664.2:g.240878099A>G | GRCh38 |
| NC_000002.11:g.241817516A>G , CM000664.1:g.241817516A>G | GRCh37 |
| NC_000002.10:g.241466189A>G | NCBI36 |
| NG_008005.1:g.14355A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.1020A>G MANE Select | ENSP00000302620.3:p.Ile340Met | |
| ENST00000307503.3:c.1020A>G | ENSP00000302620.3:p.Ile340Met | |
| ENST00000470255.1:n.798A>G | ||
| NM_000030.2:c.1020A>G | NP_000021.1:p.Ile340Met | |
| NM_000030.3:c.1020A>G MANE Select | NP_000021.1:p.Ile340Met |