Linked Data
ClinVar Variation Id:
2384905
ClinVar RCV Id:
RCV002675364
dbSNP Id:
rs748621748
ExAC:
1:152277103 T / C
gnomAD v2:
1-152277103-T-C
gnomAD v3:
1-152304627-T-C
gnomAD v4:
1-152304627-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304627T>C , CM000663.2:g.152304627T>C | GRCh38 |
| NC_000001.10:g.152277103T>C , CM000663.1:g.152277103T>C | GRCh37 |
| NC_000001.9:g.150543727T>C | NCBI36 |
| NG_016190.1:g.25577A>G , LRG_1028:g.25577A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10259A>G MANE Select | ENSP00000357789.1:p.Asp3420Gly | |
| ENST00000368799.1:c.10259A>G | ENSP00000357789.1:p.Asp3420Gly | |
| NM_002016.1:c.10259A>G , LRG_1028t1:c.10259A>G | NP_002007.1:p.Asp3420Gly | |
| XM_011509329.1:c.9109-794A>G | XP_011507631.1:n.9109-794A>G | |
| NM_002016.2:c.10259A>G MANE Select | NP_002007.1:p.Asp3420Gly |