Linked Data
dbSNP Id:
rs1399622270
gnomAD v2:
15-22969320-A-G
gnomAD v3:
15-22903748-T-C
gnomAD v4:
15-22903748-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22903748T>C , CM000677.2:g.22903748T>C | GRCh38 |
| NC_000015.9:g.22969320A>G , CM000677.1:g.22969320A>G | GRCh37 |
| NC_000015.8:g.20520761A>G | NCBI36 |
| NG_054889.1:g.82159A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612288.2:c.2540A>G | ENSP00000479802.2:p.Tyr847Cys | |
| ENST00000617928.5:c.2546A>G MANE Select | ENSP00000481038.1:p.Tyr849Cys | |
| ENST00000610365.4:c.2546A>G | ENSP00000478779.1:p.Tyr849Cys | |
| ENST00000617556.4:c.1253A>G | ENSP00000480525.1:p.Tyr418Cys | |
| ENST00000617928.4:c.2546A>G | ENSP00000481038.1:p.Tyr849Cys | |
| ENST00000619348.4:n.1693A>G | ||
| NM_001033028.1:c.1253A>G | NP_001028200.1:p.Tyr418Cys | |
| NM_001287810.1:c.2546A>G | NP_001274739.1:p.Tyr849Cys | |
| NM_014608.3:c.2546A>G | NP_055423.1:p.Tyr849Cys | |
| XM_011543873.1:c.2945A>G | XP_011542175.1:p.Tyr982Cys | |
| XM_011543874.1:c.2945A>G | XP_011542176.1:p.Tyr982Cys | |
| XM_011543875.1:c.2945A>G | XP_011542177.1:p.Tyr982Cys | |
| XM_011543876.1:c.2540A>G | XP_011542178.1:p.Tyr847Cys | |
| NM_001033028.2:c.1253A>G | NP_001028200.1:p.Tyr418Cys | |
| NM_001287810.3:c.2546A>G | NP_001274739.1:p.Tyr849Cys | |
| NM_001324119.2:c.2648A>G | NP_001311048.1:p.Tyr883Cys | |
| NM_001324120.2:c.2546A>G | NP_001311049.1:p.Tyr849Cys | |
| NM_001324122.2:c.866A>G | NP_001311051.1:p.Tyr289Cys | |
| NM_001324123.2:c.2546A>G | NP_001311052.1:p.Tyr849Cys | |
| NM_001324124.2:c.2456A>G | NP_001311053.1:p.Tyr819Cys | |
| NM_001324125.2:c.2180A>G | NP_001311054.1:p.Tyr727Cys | |
| NM_001324126.2:c.2444A>G | NP_001311055.1:p.Tyr815Cys | |
| NM_014608.5:c.2546A>G | NP_055423.1:p.Tyr849Cys | |
| XM_011543873.3:c.2945A>G | XP_011542175.1:p.Tyr982Cys | |
| XM_011543874.2:c.2945A>G | XP_011542176.1:p.Tyr982Cys | |
| XM_011543876.3:c.2642A>G | XP_011542178.2:p.Tyr881Cys | |
| XM_017022023.2:c.3047A>G | XP_016877512.1:p.Tyr1016Cys | |
| XM_017022024.2:c.2945A>G | XP_016877513.1:p.Tyr982Cys | |
| XM_024449876.1:c.2945A>G | XP_024305644.1:p.Tyr982Cys | |
| XM_024449877.1:c.2546A>G | XP_024305645.1:p.Tyr849Cys | |
| NM_014608.6:c.2546A>G MANE Select | NP_055423.1:p.Tyr849Cys | |
| NM_001287810.4:c.2546A>G | NP_001274739.1:p.Tyr849Cys | |
| NM_001324122.3:c.866A>G | NP_001311051.1:p.Tyr289Cys | |
| NM_001324123.3:c.2546A>G | NP_001311052.1:p.Tyr849Cys | |
| NM_001324124.3:c.2456A>G | NP_001311053.1:p.Tyr819Cys | |
| NM_001324125.3:c.2180A>G | NP_001311054.1:p.Tyr727Cys | |
| NM_001324126.3:c.2444A>G | NP_001311055.1:p.Tyr815Cys | |
| NM_001033028.3:c.1253A>G | NP_001028200.1:p.Tyr418Cys |