Linked Data
ClinVar Variation Id:
2374878
ClinVar RCV Id:
RCV004213006
dbSNP Id:
rs1026491982
gnomAD v2:
1-41327759-A-C
gnomAD v3:
1-40862087-A-C
gnomAD v4:
1-40862087-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40862087A>C , CM000663.2:g.40862087A>C | GRCh38 |
| NC_000001.10:g.41327759A>C , CM000663.1:g.41327759A>C | GRCh37 |
| NC_000001.9:g.41100346A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372638.4:c.41T>G MANE Select | ENSP00000361721.2:p.Val14Gly | |
| ENST00000372638.3:c.41T>G | ENSP00000361721.2:p.Val14Gly | |
| NM_133467.2:c.41T>G | NP_597724.1:p.Val14Gly | |
| NM_133467.3:c.41T>G MANE Select | NP_597724.1:p.Val14Gly |