Linked Data
ClinVar Variation Id:
518481
dbSNP Id:
rs1386204884
gnomAD v2:
1-237870366-A-G
gnomAD v4:
1-237707066-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237707066A>G , CM000663.2:g.237707066A>G | GRCh38 |
| NC_000001.10:g.237870366A>G , CM000663.1:g.237870366A>G | GRCh37 |
| NC_000001.9:g.235936989A>G | NCBI36 |
| NG_008799.2:g.669665A>G | |
| NG_008799.3:g.669883A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609119.2:c.*733A>G | ENSP00000499659.2:n.*733A>G | |
| ENST00000659194.3:c.9698A>G | ENSP00000499653.3:p.His3233Arg | |
| ENST00000660292.2:c.9698A>G | ENSP00000499787.2:p.His3233Arg | |
| ENST00000659194.2:c.1887A>G | ||
| ENST00000366574.7:c.9698A>G MANE Select | ENSP00000355533.2:p.His3233Arg | |
| ENST00000659194.1:c.1887A>G | ||
| ENST00000360064.7:c.9650A>G | ENSP00000353174.7:p.His3217Arg | |
| ENST00000366574.6:c.9698A>G | ENSP00000355533.2:p.His3233Arg | |
| ENST00000609119.1:n.836A>G | ||
| NM_001035.2:c.9698A>G | NP_001026.2:p.His3233Arg | |
| XM_006711802.2:c.9728A>G | XP_006711865.1:p.His3243Arg | |
| XM_006711803.2:c.9725A>G | XP_006711866.1:p.His3242Arg | |
| XM_006711804.2:c.9728A>G | XP_006711867.1:p.His3243Arg | |
| XM_006711805.2:c.9698A>G | XP_006711868.1:p.His3233Arg | |
| XM_006711806.2:c.9728A>G | XP_006711869.1:p.His3243Arg | |
| XM_006711807.2:c.9728A>G | XP_006711870.1:p.His3243Arg | |
| XM_006711808.2:c.9491A>G | XP_006711871.1:p.His3164Arg | |
| XM_006711810.2:c.9695A>G | XP_006711873.1:p.His3232Arg | |
| XM_006711802.3:c.9728A>G | XP_006711865.1:p.His3243Arg | |
| XM_006711803.3:c.9725A>G | XP_006711866.1:p.His3242Arg | |
| XM_006711804.3:c.9728A>G | XP_006711867.1:p.His3243Arg | |
| XM_006711805.3:c.9698A>G | XP_006711868.1:p.His3233Arg | |
| XM_006711806.3:c.9728A>G | XP_006711869.1:p.His3243Arg | |
| XM_006711807.3:c.9728A>G | XP_006711870.1:p.His3243Arg | |
| XM_006711808.3:c.9491A>G | XP_006711871.1:p.His3164Arg | |
| XM_006711810.3:c.9695A>G | XP_006711873.1:p.His3232Arg | |
| XM_017002028.1:c.9707A>G | XP_016857517.1:p.His3236Arg | |
| NM_001035.3:c.9698A>G MANE Select | NP_001026.2:p.His3233Arg |