Linked Data
ClinVar Variation Id:
725130
ClinVar RCV Id:
RCV000899150
dbSNP Id:
rs149590849
ExAC:
1:23234535 T / C
gnomAD v2:
1-23234535-T-C
gnomAD v3:
1-22908042-T-C
gnomAD v4:
1-22908042-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22908042T>C , CM000663.2:g.22908042T>C | GRCh38 |
| NC_000001.10:g.23234535T>C , CM000663.1:g.23234535T>C | GRCh37 |
| NC_000001.9:g.23107122T>C | NCBI36 |
| NG_011804.2:g.202205T>C , LRG_780:g.202205T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374630.8:c.2226T>C MANE Select | ENSP00000363761.3:p.Tyr742= | |
| ENST00000374627.1:c.2211T>C | ENSP00000363758.1:p.Tyr737= | |
| ENST00000374630.7:c.2226T>C | ENSP00000363761.3:p.Tyr742= | |
| ENST00000374632.7:c.2229T>C | ENSP00000363763.3:p.Tyr743= | |
| ENST00000400191.7:c.2226T>C | ENSP00000383053.3:p.Tyr742= | |
| NM_001309192.1:c.2052T>C | NP_001296121.1:p.Tyr684= | |
| NM_001309193.1:c.2226T>C | NP_001296122.1:p.Tyr742= | |
| NM_004442.6:c.2229T>C | NP_004433.2:p.Tyr743= | |
| NM_004442.7:c.2229T>C , LRG_780t1:c.2229T>C | NP_004433.2:p.Tyr743= | |
| NM_017449.3:c.2226T>C | NP_059145.2:p.Tyr742= | |
| NM_017449.4:c.2226T>C , LRG_780t2:c.2226T>C | NP_059145.2:p.Tyr742= | |
| XM_006710441.2:c.2208T>C | XP_006710504.1:p.Tyr736= | |
| XM_006710442.2:c.2136T>C | XP_006710505.1:p.Tyr712= | |
| XM_011540976.1:c.903T>C | XP_011539278.1:p.Tyr301= | |
| XM_006710441.4:c.2208T>C | XP_006710504.1:p.Tyr736= | |
| XM_006710442.4:c.2136T>C | XP_006710505.1:p.Tyr712= | |
| XM_024453895.1:c.903T>C | XP_024309663.1:p.Tyr301= | |
| NM_001309192.2:c.2052T>C | NP_001296121.1:p.Tyr684= | |
| NM_001309193.2:c.2226T>C | NP_001296122.1:p.Tyr742= | |
| NM_017449.5:c.2226T>C MANE Select | NP_059145.2:p.Tyr742= |