Linked Data
dbSNP Id:
rs751759203
ExAC:
10:73122147 C / G
gnomAD v2:
10-73122147-C-G
gnomAD v4:
10-71362390-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71362390C>G , CM000672.2:g.71362390C>G | GRCh38 |
| NC_000010.10:g.73122147C>G , CM000672.1:g.73122147C>G | GRCh37 |
| NC_000010.9:g.72792153C>G | NCBI36 |
| NG_017066.1:g.48138C>G | |
| NG_017066.2:g.48132C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.2686C>G | ||
| ENST00000373189.6:c.1210C>G MANE Select | ENSP00000362285.5:p.Leu404Val | |
| ENST00000479577.2:c.976C>G | ENSP00000493995.1:p.Leu326Val | |
| ENST00000642198.1:c.*782C>G | ENSP00000494827.1:n.*782C>G | |
| ENST00000642772.1:c.*94+6147C>G | ENSP00000495041.1:n.*94+6147C>G | |
| ENST00000643042.1:c.831C>G | ENSP00000496674.1:n.831C>G | |
| ENST00000643619.1:c.*793C>G | ENSP00000494378.1:n.*793C>G | |
| ENST00000643752.1:c.*536C>G | ENSP00000495000.1:n.*536C>G | |
| ENST00000644088.1:c.*531C>G | ENSP00000494066.1:n.*531C>G | |
| ENST00000644591.1:c.*536C>G | ENSP00000496664.1:n.*536C>G | |
| ENST00000644895.1:c.*99+6147C>G | ENSP00000493872.1:n.*99+6147C>G | |
| ENST00000645345.1:c.*782C>G | ENSP00000495859.1:n.*782C>G | |
| ENST00000647524.1:c.*793C>G | ENSP00000495077.1:n.*793C>G | |
| ENST00000373189.5:c.1210C>G | ENSP00000362285.5:p.Leu404Val | |
| ENST00000469204.1:n.707C>G | ||
| NM_001174098.1:c.*439C>G | NP_001167569.1:n.*439C>G | |
| NM_018344.5:c.1210C>G | NP_060814.4:p.Leu404Val | |
| NR_033413.1:n.1184C>G | ||
| NR_033414.1:n.957C>G | ||
| XM_006717910.2:c.976C>G | XP_006717973.1:p.Leu326Val | |
| NM_001363518.1:c.976C>G | NP_001350447.1:p.Leu326Val | |
| XM_017016377.2:c.772C>G | XP_016871866.1:p.Leu258Val | |
| XM_017016378.2:c.592C>G | XP_016871867.1:p.Leu198Val | |
| NM_018344.6:c.1210C>G MANE Select | NP_060814.4:p.Leu404Val | |
| NM_001174098.2:c.*439C>G | NP_001167569.1:n.*439C>G | |
| NM_001363518.2:c.976C>G | NP_001350447.1:p.Leu326Val | |
| NR_033413.2:n.1178C>G | ||
| NR_033414.2:n.951C>G |