Linked Data
ClinVar Variation Id:
3028736
ClinVar RCV Id:
RCV003890601
dbSNP Id:
rs755752768
ExAC:
1:216420127 C / A
gnomAD v2:
1-216420127-C-A
gnomAD v4:
1-216246785-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216246785C>A , CM000663.2:g.216246785C>A | GRCh38 |
| NC_000001.10:g.216420127C>A , CM000663.1:g.216420127C>A | GRCh37 |
| NC_000001.9:g.214486750C>A | NCBI36 |
| NG_009497.1:g.181612G>T | |
| NG_009497.2:g.181664G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.2609G>T MANE Select | ENSP00000305941.3:p.Cys870Phe | |
| ENST00000674083.1:c.2609G>T | ENSP00000501296.1:p.Cys870Phe | |
| ENST00000307340.7:c.2609G>T | ENSP00000305941.3:p.Cys870Phe | |
| ENST00000366942.3:c.2609G>T | ENSP00000355909.3:p.Cys870Phe | |
| NM_007123.5:c.2609G>T | NP_009054.5:p.Cys870Phe | |
| NM_206933.2:c.2609G>T | NP_996816.2:p.Cys870Phe | |
| NM_206933.3:c.2609G>T | NP_996816.2:p.Cys870Phe | |
| NM_007123.6:c.2609G>T | NP_009054.6:p.Cys870Phe | |
| NM_206933.4:c.2609G>T MANE Select | NP_996816.3:p.Cys870Phe |