Linked Data
dbSNP Id:
rs755007618
ExAC:
20:476355 C / A
gnomAD v2:
20-476355-C-A
gnomAD v4:
20-495711-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.495711C>A , CM000682.2:g.495711C>A | GRCh38 |
| NC_000020.10:g.476355C>A , CM000682.1:g.476355C>A | GRCh37 |
| NC_000020.9:g.424355C>A | NCBI36 |
| NG_011970.1:g.53128G>T | |
| NG_011970.2:g.53128G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217244.9:c.510+8G>T MANE Select | ENSP00000217244.3:n.510+8G>T | |
| ENST00000349736.10:c.102+8G>T | ENSP00000339247.6:n.102+8G>T | |
| ENST00000400217.7:c.510+8G>T | ENSP00000383076.2:n.510+8G>T | |
| ENST00000400227.8:c.510+8G>T | ENSP00000383086.3:n.510+8G>T | |
| ENST00000460062.7:c.102+8G>T | ENSP00000477147.2:n.102+8G>T | |
| ENST00000642689.1:c.459+8G>T | ENSP00000495414.1:n.459+8G>T | |
| ENST00000643600.1:c.510+8G>T | ENSP00000494038.1:n.510+8G>T | |
| ENST00000643602.1:n.537G>T | ||
| ENST00000643641.1:n.560+8G>T | ||
| ENST00000643660.1:c.510+8G>T | ENSP00000495248.1:n.510+8G>T | |
| ENST00000643680.1:c.510+8G>T | ENSP00000493704.1:n.510+8G>T | |
| ENST00000643700.1:n.1187+8G>T | ||
| ENST00000643968.1:c.*270G>T | ENSP00000495139.1:n.*270G>T | |
| ENST00000643980.1:n.1403+8G>T | ||
| ENST00000644003.1:c.102+8G>T | ENSP00000495387.1:n.102+8G>T | |
| ENST00000644170.1:n.677+8G>T | ||
| ENST00000644448.1:n.1010+8G>T | ||
| ENST00000644710.1:c.459+8G>T | ENSP00000493791.1:n.459+8G>T | |
| ENST00000644885.1:c.426+2010G>T | ENSP00000496146.1:n.426+2010G>T | |
| ENST00000645234.1:c.510+8G>T | ENSP00000494288.1:n.510+8G>T | |
| ENST00000645249.1:c.*583+8G>T | ENSP00000496152.1:n.*583+8G>T | |
| ENST00000645260.1:c.399+8G>T | ENSP00000493931.1:n.399+8G>T | |
| ENST00000645623.1:c.510+8G>T | ENSP00000495998.1:n.510+8G>T | |
| ENST00000645768.1:n.1137+8G>T | ||
| ENST00000645840.1:c.*328+8G>T | ENSP00000494445.1:n.*328+8G>T | |
| ENST00000645910.1:c.*262+8G>T | ENSP00000493697.1:n.*262+8G>T | |
| ENST00000646305.1:c.510+8G>T | ENSP00000495902.1:n.510+8G>T | |
| ENST00000646477.1:c.102+8G>T | ENSP00000495439.1:n.102+8G>T | |
| ENST00000646561.1:c.510+8G>T | ENSP00000496569.1:n.510+8G>T | |
| ENST00000646814.1:c.510+8G>T | ENSP00000495422.1:n.510+8G>T | |
| ENST00000647026.1:c.510+8G>T | ENSP00000494370.1:n.510+8G>T | |
| ENST00000647155.1:n.675+8G>T | ||
| ENST00000647348.1:c.510+8G>T | ENSP00000495912.1:n.510+8G>T | |
| ENST00000217244.7:c.510+8G>T | ENSP00000217244.3:n.510+8G>T | |
| ENST00000349736.9:c.510+8G>T | ENSP00000339247.5:n.510+8G>T | |
| ENST00000400217.6:c.102+8G>T | ENSP00000383076.1:n.102+8G>T | |
| ENST00000400227.7:c.510+8G>T | ENSP00000383086.3:n.510+8G>T | |
| ENST00000619188.4:c.510+8G>T | ENSP00000479630.1:n.510+8G>T | |
| NM_001895.3:c.510+8G>T | NP_001886.1:n.510+8G>T | |
| NM_177559.2:c.510+8G>T | NP_808227.1:n.510+8G>T | |
| NM_177560.2:c.102+8G>T | NP_808228.1:n.102+8G>T | |
| XM_011529175.1:c.510+8G>T | XP_011527477.1:n.510+8G>T | |
| XM_011529176.1:c.102+8G>T | XP_011527478.1:n.102+8G>T | |
| NM_001362770.1:c.510+8G>T | NP_001349699.1:n.510+8G>T | |
| NM_001362771.1:c.510+8G>T | NP_001349700.1:n.510+8G>T | |
| NM_177559.3:c.510+8G>T MANE Select | NP_808227.1:n.510+8G>T | |
| NM_001362770.2:c.510+8G>T | NP_001349699.1:n.510+8G>T | |
| NM_001362771.2:c.510+8G>T | NP_001349700.1:n.510+8G>T | |
| NM_001895.4:c.510+8G>T | NP_001886.1:n.510+8G>T | |
| NM_177560.3:c.102+8G>T | NP_808228.1:n.102+8G>T |