Linked Data
dbSNP Id:
rs765390489
ExAC:
10:73122089 C / G
gnomAD v2:
10-73122089-C-G
gnomAD v4:
10-71362332-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71362332C>G , CM000672.2:g.71362332C>G | GRCh38 |
| NC_000010.10:g.73122089C>G , CM000672.1:g.73122089C>G | GRCh37 |
| NC_000010.9:g.72792095C>G | NCBI36 |
| NG_017066.1:g.48080C>G | |
| NG_017066.2:g.48074C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.2628C>G | ||
| ENST00000373189.6:c.1152C>G MANE Select | ENSP00000362285.5:p.Leu384= | |
| ENST00000479577.2:c.918C>G | ENSP00000493995.1:p.Leu306= | |
| ENST00000642198.1:c.*724C>G | ENSP00000494827.1:n.*724C>G | |
| ENST00000642772.1:c.*94+6089C>G | ENSP00000495041.1:n.*94+6089C>G | |
| ENST00000643042.1:c.773C>G | ENSP00000496674.1:n.773C>G | |
| ENST00000643619.1:c.*735C>G | ENSP00000494378.1:n.*735C>G | |
| ENST00000643752.1:c.*478C>G | ENSP00000495000.1:n.*478C>G | |
| ENST00000644088.1:c.*473C>G | ENSP00000494066.1:n.*473C>G | |
| ENST00000644591.1:c.*478C>G | ENSP00000496664.1:n.*478C>G | |
| ENST00000644895.1:c.*99+6089C>G | ENSP00000493872.1:n.*99+6089C>G | |
| ENST00000645345.1:c.*724C>G | ENSP00000495859.1:n.*724C>G | |
| ENST00000647524.1:c.*735C>G | ENSP00000495077.1:n.*735C>G | |
| ENST00000373189.5:c.1152C>G | ENSP00000362285.5:p.Leu384= | |
| ENST00000469204.1:n.649C>G | ||
| NM_001174098.1:c.*381C>G | NP_001167569.1:n.*381C>G | |
| NM_018344.5:c.1152C>G | NP_060814.4:p.Leu384= | |
| NR_033413.1:n.1126C>G | ||
| NR_033414.1:n.899C>G | ||
| XM_006717910.2:c.918C>G | XP_006717973.1:p.Leu306= | |
| NM_001363518.1:c.918C>G | NP_001350447.1:p.Leu306= | |
| XM_017016377.2:c.714C>G | XP_016871866.1:p.Leu238= | |
| XM_017016378.2:c.534C>G | XP_016871867.1:p.Leu178= | |
| NM_018344.6:c.1152C>G MANE Select | NP_060814.4:p.Leu384= | |
| NM_001174098.2:c.*381C>G | NP_001167569.1:n.*381C>G | |
| NM_001363518.2:c.918C>G | NP_001350447.1:p.Leu306= | |
| NR_033413.2:n.1120C>G | ||
| NR_033414.2:n.893C>G |