Linked Data
ClinVar Variation Id:
472997
ClinVar RCV Id:
RCV000543526
dbSNP Id:
rs571916140
ExAC:
3:93595967 T / C
gnomAD v2:
3-93595967-T-C
gnomAD v3:
3-93877123-T-C
gnomAD v4:
3-93877123-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93877123T>C , CM000665.2:g.93877123T>C | GRCh38 |
| NC_000003.11:g.93595967T>C , CM000665.1:g.93595967T>C | GRCh37 |
| NC_000003.10:g.95078657T>C | NCBI36 |
| NG_009813.1:g.101968A>G , LRG_572:g.101968A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1713A>G | ENSP00000330021.7:p.Gln571= | |
| ENST00000394236.9:c.1713A>G MANE Select | ENSP00000377783.3:p.Gln571= | |
| ENST00000407433.6:c.1668A>G | ENSP00000385794.2:p.Gln556= | |
| ENST00000647936.1:c.1644+2040A>G | ENSP00000496822.1:n.1644+2040A>G | |
| ENST00000648381.1:n.1881A>G | ||
| ENST00000648853.1:c.1671A>G | ENSP00000497262.1:p.Gln557= | |
| ENST00000649103.1:c.1812A>G | ENSP00000497962.1:n.1812A>G | |
| ENST00000649585.1:c.656A>G | ENSP00000498163.1:n.656A>G | |
| ENST00000650591.1:c.1809A>G | ENSP00000497376.1:p.Gln603= | |
| ENST00000394236.7:c.1713A>G | ENSP00000377783.3:p.Gln571= | |
| ENST00000407433.5:c.1320A>G | ENSP00000385794.1:p.Gln440= | |
| NM_000313.3:c.1713A>G , LRG_572t1:c.1713A>G | NP_000304.2:p.Gln571= | |
| NM_001314077.1:c.1809A>G , LRG_572t2:c.1809A>G | NP_001301006.1:p.Gln603= | |
| NM_000313.4:c.1713A>G MANE Select | NP_000304.2:p.Gln571= | |
| NM_001314077.2:c.1809A>G | NP_001301006.1:p.Gln603= |