Linked Data
ClinVar Variation Id:
568628
ClinVar RCV Id:
RCV000689049
dbSNP Id:
rs1423207026
COSMIC:
COSM6377704
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189571755C>A , CM000664.2:g.189571755C>A | GRCh38 |
| NC_000002.11:g.190436481C>A , CM000664.1:g.190436481C>A | GRCh37 |
| NC_000002.10:g.190144726C>A | NCBI36 |
| NG_009027.1:g.14057G>T , LRG_837:g.14057G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.474G>T MANE Select | ENSP00000261024.3:p.Trp158Cys | |
| ENST00000261024.6:c.474G>T | ENSP00000261024.2:p.Trp158Cys | |
| ENST00000427241.5:c.474G>T | ENSP00000390005.1:p.Trp158Cys | |
| NM_014585.5:c.474G>T , LRG_837t1:c.474G>T | NP_055400.1:p.Trp158Cys | |
| XM_005246505.1:c.354G>T | XP_005246562.1:p.Trp118Cys | |
| XM_005246505.2:c.354G>T | XP_005246562.1:p.Trp118Cys | |
| XM_017003938.2:c.354G>T | XP_016859427.1:p.Trp118Cys | |
| NM_014585.6:c.474G>T MANE Select | NP_055400.1:p.Trp158Cys |