Linked Data
dbSNP Id:
rs747180509
ExAC:
11:17408867 A / G
gnomAD v2:
11-17408867-A-G
gnomAD v3:
11-17387320-A-G
gnomAD v4:
11-17387320-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387320A>G , CM000673.2:g.17387320A>G | GRCh38 |
| NC_000011.9:g.17408867A>G , CM000673.1:g.17408867A>G | GRCh37 |
| NC_000011.8:g.17365443A>G | NCBI36 |
| NG_012446.1:g.6340T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.511T>C | ENSP00000508090.1:p.Tyr171His | |
| ENST00000682764.1:c.511T>C | ENSP00000506780.1:p.Tyr171His | |
| ENST00000339994.5:c.772T>C MANE Select | ENSP00000345708.4:p.Tyr258His | |
| ENST00000339994.4:c.772T>C | ENSP00000345708.4:p.Tyr258His | |
| ENST00000528731.1:c.511T>C | ENSP00000434755.1:p.Tyr171His | |
| NM_000525.3:c.772T>C | NP_000516.3:p.Tyr258His | |
| NM_001166290.1:c.511T>C | NP_001159762.1:p.Tyr171His | |
| XM_006718226.2:c.511T>C | XP_006718289.1:p.Tyr171His | |
| XR_930867.1:n.930T>C | ||
| XM_006718226.3:c.511T>C | XP_006718289.1:p.Tyr171His | |
| XM_017017680.1:c.511T>C | XP_016873169.1:p.Tyr171His | |
| NM_001166290.2:c.511T>C | NP_001159762.1:p.Tyr171His | |
| NM_001377296.1:c.511T>C | NP_001364225.1:p.Tyr171His | |
| NM_001377297.1:c.511T>C | NP_001364226.1:p.Tyr171His | |
| NM_000525.4:c.772T>C MANE Select | NP_000516.3:p.Tyr258His |