Linked Data
dbSNP Id:
rs1383986920
gnomAD v2:
10-73122166-A-G
gnomAD v3:
10-71362409-A-G
gnomAD v4:
10-71362409-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71362409A>G , CM000672.2:g.71362409A>G | GRCh38 |
| NC_000010.10:g.73122166A>G , CM000672.1:g.73122166A>G | GRCh37 |
| NC_000010.9:g.72792172A>G | NCBI36 |
| NG_017066.1:g.48157A>G | |
| NG_017066.2:g.48151A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.2705A>G | ||
| ENST00000373189.6:c.1229A>G MANE Select | ENSP00000362285.5:p.Gln410Arg | |
| ENST00000479577.2:c.995A>G | ENSP00000493995.1:p.Gln332Arg | |
| ENST00000642198.1:c.*801A>G | ENSP00000494827.1:n.*801A>G | |
| ENST00000642772.1:c.*94+6166A>G | ENSP00000495041.1:n.*94+6166A>G | |
| ENST00000643042.1:c.850A>G | ENSP00000496674.1:n.850A>G | |
| ENST00000643619.1:c.*812A>G | ENSP00000494378.1:n.*812A>G | |
| ENST00000643752.1:c.*555A>G | ENSP00000495000.1:n.*555A>G | |
| ENST00000644088.1:c.*550A>G | ENSP00000494066.1:n.*550A>G | |
| ENST00000644591.1:c.*555A>G | ENSP00000496664.1:n.*555A>G | |
| ENST00000644895.1:c.*99+6166A>G | ENSP00000493872.1:n.*99+6166A>G | |
| ENST00000645345.1:c.*801A>G | ENSP00000495859.1:n.*801A>G | |
| ENST00000647524.1:c.*812A>G | ENSP00000495077.1:n.*812A>G | |
| ENST00000373189.5:c.1229A>G | ENSP00000362285.5:p.Gln410Arg | |
| ENST00000469204.1:n.726A>G | ||
| NM_001174098.1:c.*458A>G | NP_001167569.1:n.*458A>G | |
| NM_018344.5:c.1229A>G | NP_060814.4:p.Gln410Arg | |
| NR_033413.1:n.1203A>G | ||
| NR_033414.1:n.976A>G | ||
| XM_006717910.2:c.995A>G | XP_006717973.1:p.Gln332Arg | |
| NM_001363518.1:c.995A>G | NP_001350447.1:p.Gln332Arg | |
| XM_017016377.2:c.791A>G | XP_016871866.1:p.Gln264Arg | |
| XM_017016378.2:c.611A>G | XP_016871867.1:p.Gln204Arg | |
| NM_018344.6:c.1229A>G MANE Select | NP_060814.4:p.Gln410Arg | |
| NM_001174098.2:c.*458A>G | NP_001167569.1:n.*458A>G | |
| NM_001363518.2:c.995A>G | NP_001350447.1:p.Gln332Arg | |
| NR_033413.2:n.1197A>G | ||
| NR_033414.2:n.970A>G |