Linked Data
ClinVar Variation Id:
1006654
ClinVar RCV Id:
RCV001303731
dbSNP Id:
rs1662225276
gnomAD v4:
1-215799065-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215799065C>A , CM000663.2:g.215799065C>A | GRCh38 |
| NC_000001.10:g.215972407C>A , CM000663.1:g.215972407C>A | GRCh37 |
| NC_000001.9:g.214039030C>A | NCBI36 |
| NG_009497.1:g.629332G>T | |
| NG_009497.2:g.629384G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9800G>T MANE Select | ENSP00000305941.3:p.Cys3267Phe | |
| ENST00000674083.1:c.9800G>T | ENSP00000501296.1:p.Cys3267Phe | |
| ENST00000307340.7:c.9800G>T | ENSP00000305941.3:p.Cys3267Phe | |
| NM_206933.2:c.9800G>T | NP_996816.2:p.Cys3267Phe | |
| NM_206933.3:c.9800G>T | NP_996816.2:p.Cys3267Phe | |
| NM_206933.4:c.9800G>T MANE Select | NP_996816.3:p.Cys3267Phe |