Linked Data
ClinVar Variation Id:
330744
dbSNP Id:
rs770812369
ExAC:
2:112705096 C / T
gnomAD v2:
2-112705096-C-T
gnomAD v4:
2-111947519-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111947519C>T , CM000664.2:g.111947519C>T | GRCh38 |
| NC_000002.11:g.112705096C>T , CM000664.1:g.112705096C>T | GRCh37 |
| NC_000002.10:g.112421567C>T | NCBI36 |
| NG_011607.1:g.53906C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.709C>T MANE Select | ENSP00000295408.4:p.Arg237Cys | |
| ENST00000295408.8:c.709C>T | ENSP00000295408.4:p.Arg237Cys | |
| ENST00000409780.5:c.181C>T | ENSP00000387277.1:p.Arg61Cys | |
| ENST00000421804.6:c.709C>T | ENSP00000389152.2:p.Arg237Cys | |
| ENST00000439966.5:c.*182C>T | ENSP00000402129.1:n.*182C>T | |
| ENST00000616902.4:c.-507C>T | ENSP00000482824.1:n.-507C>T | |
| NM_006343.2:c.709C>T | NP_006334.2:p.Arg237Cys | |
| XM_005263565.3:c.709C>T | XP_005263622.1:p.Arg237Cys | |
| XM_005263568.3:c.709C>T | XP_005263625.1:p.Arg237Cys | |
| XM_011510490.1:c.520C>T | XP_011508792.1:p.Arg174Cys | |
| XM_005263565.4:c.709C>T | XP_005263622.1:p.Arg237Cys | |
| XM_005263568.4:c.709C>T | XP_005263625.1:p.Arg237Cys | |
| XM_011510490.3:c.520C>T | XP_011508792.1:p.Arg174Cys | |
| XM_017003164.1:c.520C>T | XP_016858653.1:p.Arg174Cys | |
| XM_017003165.2:c.-559C>T | XP_016858654.1:n.-559C>T | |
| NM_006343.3:c.709C>T MANE Select | NP_006334.2:p.Arg237Cys |