Linked Data
dbSNP Id:
rs762341042
ExAC:
20:476320 T / G
gnomAD v2:
20-476320-T-G
gnomAD v3:
20-495676-T-G
gnomAD v4:
20-495676-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.495676T>G , CM000682.2:g.495676T>G | GRCh38 |
| NC_000020.10:g.476320T>G , CM000682.1:g.476320T>G | GRCh37 |
| NC_000020.9:g.424320T>G | NCBI36 |
| NG_011970.1:g.53163A>C | |
| NG_011970.2:g.53163A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217244.9:c.510+43A>C MANE Select | ENSP00000217244.3:n.510+43A>C | |
| ENST00000349736.10:c.102+43A>C | ENSP00000339247.6:n.102+43A>C | |
| ENST00000400217.7:c.510+43A>C | ENSP00000383076.2:n.510+43A>C | |
| ENST00000400227.8:c.510+43A>C | ENSP00000383086.3:n.510+43A>C | |
| ENST00000460062.7:c.102+43A>C | ENSP00000477147.2:n.102+43A>C | |
| ENST00000642689.1:c.459+43A>C | ENSP00000495414.1:n.459+43A>C | |
| ENST00000643600.1:c.510+43A>C | ENSP00000494038.1:n.510+43A>C | |
| ENST00000643602.1:n.572A>C | ||
| ENST00000643641.1:n.560+43A>C | ||
| ENST00000643660.1:c.510+43A>C | ENSP00000495248.1:n.510+43A>C | |
| ENST00000643680.1:c.510+43A>C | ENSP00000493704.1:n.510+43A>C | |
| ENST00000643700.1:n.1187+43A>C | ||
| ENST00000643968.1:c.*305A>C | ENSP00000495139.1:n.*305A>C | |
| ENST00000643980.1:n.1403+43A>C | ||
| ENST00000644003.1:c.102+43A>C | ENSP00000495387.1:n.102+43A>C | |
| ENST00000644170.1:n.677+43A>C | ||
| ENST00000644448.1:n.1010+43A>C | ||
| ENST00000644710.1:c.459+43A>C | ENSP00000493791.1:n.459+43A>C | |
| ENST00000644885.1:c.426+2045A>C | ENSP00000496146.1:n.426+2045A>C | |
| ENST00000645234.1:c.510+43A>C | ENSP00000494288.1:n.510+43A>C | |
| ENST00000645249.1:c.*583+43A>C | ENSP00000496152.1:n.*583+43A>C | |
| ENST00000645260.1:c.399+43A>C | ENSP00000493931.1:n.399+43A>C | |
| ENST00000645623.1:c.510+43A>C | ENSP00000495998.1:n.510+43A>C | |
| ENST00000645768.1:n.1137+43A>C | ||
| ENST00000645840.1:c.*328+43A>C | ENSP00000494445.1:n.*328+43A>C | |
| ENST00000645910.1:c.*262+43A>C | ENSP00000493697.1:n.*262+43A>C | |
| ENST00000646305.1:c.510+43A>C | ENSP00000495902.1:n.510+43A>C | |
| ENST00000646477.1:c.102+43A>C | ENSP00000495439.1:n.102+43A>C | |
| ENST00000646561.1:c.510+43A>C | ENSP00000496569.1:n.510+43A>C | |
| ENST00000646814.1:c.510+43A>C | ENSP00000495422.1:n.510+43A>C | |
| ENST00000647026.1:c.510+43A>C | ENSP00000494370.1:n.510+43A>C | |
| ENST00000647155.1:n.675+43A>C | ||
| ENST00000647348.1:c.510+43A>C | ENSP00000495912.1:n.510+43A>C | |
| ENST00000217244.7:c.510+43A>C | ENSP00000217244.3:n.510+43A>C | |
| ENST00000349736.9:c.510+43A>C | ENSP00000339247.5:n.510+43A>C | |
| ENST00000400217.6:c.102+43A>C | ENSP00000383076.1:n.102+43A>C | |
| ENST00000400227.7:c.510+43A>C | ENSP00000383086.3:n.510+43A>C | |
| ENST00000619188.4:c.510+43A>C | ENSP00000479630.1:n.510+43A>C | |
| NM_001895.3:c.510+43A>C | NP_001886.1:n.510+43A>C | |
| NM_177559.2:c.510+43A>C | NP_808227.1:n.510+43A>C | |
| NM_177560.2:c.102+43A>C | NP_808228.1:n.102+43A>C | |
| XM_011529175.1:c.510+43A>C | XP_011527477.1:n.510+43A>C | |
| XM_011529176.1:c.102+43A>C | XP_011527478.1:n.102+43A>C | |
| NM_001362770.1:c.510+43A>C | NP_001349699.1:n.510+43A>C | |
| NM_001362771.1:c.510+43A>C | NP_001349700.1:n.510+43A>C | |
| NM_177559.3:c.510+43A>C MANE Select | NP_808227.1:n.510+43A>C | |
| NM_001362770.2:c.510+43A>C | NP_001349699.1:n.510+43A>C | |
| NM_001362771.2:c.510+43A>C | NP_001349700.1:n.510+43A>C | |
| NM_001895.4:c.510+43A>C | NP_001886.1:n.510+43A>C | |
| NM_177560.3:c.102+43A>C | NP_808228.1:n.102+43A>C |