Linked Data
ClinVar Variation Id:
960746
ClinVar RCV Id:
RCV001234326
dbSNP Id:
rs1652723339
gnomAD v4:
1-119753312-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119753312A>C , CM000663.2:g.119753312A>C | GRCh38 |
| NC_000001.10:g.120295935A>C , CM000663.1:g.120295935A>C | GRCh37 |
| NC_000001.9:g.120097458A>C | NCBI36 |
| NG_013348.1:g.20621T>G , LRG_447:g.20621T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.1262T>G MANE Select | ENSP00000358414.3:p.Phe421Cys | |
| ENST00000369406.7:c.1262T>G | ENSP00000358414.3:p.Phe421Cys | |
| ENST00000544913.2:c.1136T>G | ENSP00000439495.2:p.Phe379Cys | |
| NM_001166107.1:c.1136T>G , LRG_447t2:c.1136T>G | NP_001159579.1:p.Phe379Cys | |
| NM_005518.3:c.1262T>G , LRG_447t1:c.1262T>G | NP_005509.1:p.Phe421Cys | |
| XM_011541313.1:c.1097T>G | XP_011539615.1:p.Phe366Cys | |
| XM_011541313.2:c.1097T>G | XP_011539615.1:p.Phe366Cys | |
| NM_005518.4:c.1262T>G MANE Select | NP_005509.1:p.Phe421Cys |