Linked Data
ClinVar Variation Id:
157522
ClinVar RCV Id:
RCV000144864
dbSNP Id:
rs199927590
ExAC:
19:10908100 A / G
gnomAD v2:
19-10908100-A-G
gnomAD v3:
19-10797424-A-G
gnomAD v4:
19-10797424-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10797424A>G , CM000681.2:g.10797424A>G | GRCh38 |
| NC_000019.9:g.10908100A>G , CM000681.1:g.10908100A>G | GRCh37 |
| NC_000019.8:g.10769100A>G | NCBI36 |
| NG_008792.1:g.84346A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682285.1:n.1429A>G | ||
| ENST00000683738.1:n.1568A>G | ||
| ENST00000355667.11:c.1336-1062A>G | ENSP00000347890.6:n.1336-1062A>G | |
| ENST00000389253.9:c.1241A>G MANE Select | ENSP00000373905.4:p.Lys414Arg | |
| ENST00000355667.10:c.1336-1062A>G | ENSP00000347890.6:n.1336-1062A>G | |
| ENST00000359692.10:c.1336-1062A>G | ENSP00000352721.6:n.1336-1062A>G | |
| ENST00000389253.8:c.1241A>G | ENSP00000373905.3:p.Lys414Arg | |
| ENST00000408974.8:c.1241A>G | ENSP00000386192.3:p.Lys414Arg | |
| ENST00000585892.5:c.1336-1062A>G | ENSP00000468734.1:n.1336-1062A>G | |
| ENST00000587830.2:c.497A>G | ENSP00000466603.2:p.Lys166Arg | |
| ENST00000593220.1:n.485-1062A>G | ||
| NM_001005360.2:c.1336-1062A>G | NP_001005360.1:n.1336-1062A>G | |
| NM_001005361.2:c.1241A>G | NP_001005361.1:p.Lys414Arg | |
| NM_001005362.2:c.1241A>G | NP_001005362.1:p.Lys414Arg | |
| NM_001190716.1:c.1336-1062A>G | NP_001177645.1:n.1336-1062A>G | |
| NM_004945.3:c.1336-1062A>G | NP_004936.2:n.1336-1062A>G | |
| NM_001005361.3:c.1241A>G MANE Select | NP_001005361.1:p.Lys414Arg | |
| NM_001190716.2:c.1336-1062A>G | NP_001177645.1:n.1336-1062A>G | |
| NM_001005360.3:c.1336-1062A>G | NP_001005360.1:n.1336-1062A>G | |
| NM_001005362.3:c.1241A>G | NP_001005362.1:p.Lys414Arg | |
| NM_004945.4:c.1336-1062A>G | NP_004936.2:n.1336-1062A>G |