Linked Data
ClinVar Variation Id:
786983
ClinVar RCV Id:
RCV000969133
dbSNP Id:
rs142173175
ExAC:
1:23233263 T / C
gnomAD v2:
1-23233263-T-C
gnomAD v3:
1-22906770-T-C
gnomAD v4:
1-22906770-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22906770T>C , CM000663.2:g.22906770T>C | GRCh38 |
| NC_000001.10:g.23233263T>C , CM000663.1:g.23233263T>C | GRCh37 |
| NC_000001.9:g.23105850T>C | NCBI36 |
| NG_011804.2:g.200933T>C , LRG_780:g.200933T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374630.8:c.1949T>C MANE Select | ENSP00000363761.3:p.Val650Ala | |
| ENST00000374627.1:c.1934T>C | ENSP00000363758.1:p.Val645Ala | |
| ENST00000374630.7:c.1949T>C | ENSP00000363761.3:p.Val650Ala | |
| ENST00000374632.7:c.1952T>C | ENSP00000363763.3:p.Val651Ala | |
| ENST00000400191.7:c.1949T>C | ENSP00000383053.3:p.Val650Ala | |
| NM_001309192.1:c.1775T>C | NP_001296121.1:p.Val592Ala | |
| NM_001309193.1:c.1949T>C | NP_001296122.1:p.Val650Ala | |
| NM_004442.6:c.1952T>C | NP_004433.2:p.Val651Ala | |
| NM_004442.7:c.1952T>C , LRG_780t1:c.1952T>C | NP_004433.2:p.Val651Ala | |
| NM_017449.3:c.1949T>C | NP_059145.2:p.Val650Ala | |
| NM_017449.4:c.1949T>C , LRG_780t2:c.1949T>C | NP_059145.2:p.Val650Ala | |
| XM_006710441.2:c.1931T>C | XP_006710504.1:p.Val644Ala | |
| XM_006710442.2:c.1859T>C | XP_006710505.1:p.Val620Ala | |
| XM_011540976.1:c.626T>C | XP_011539278.1:p.Val209Ala | |
| XM_006710441.4:c.1931T>C | XP_006710504.1:p.Val644Ala | |
| XM_006710442.4:c.1859T>C | XP_006710505.1:p.Val620Ala | |
| XM_024453895.1:c.626T>C | XP_024309663.1:p.Val209Ala | |
| NM_001309192.2:c.1775T>C | NP_001296121.1:p.Val592Ala | |
| NM_001309193.2:c.1949T>C | NP_001296122.1:p.Val650Ala | |
| NM_017449.5:c.1949T>C MANE Select | NP_059145.2:p.Val650Ala |