Linked Data
ClinVar Variation Id:
1898920
ClinVar RCV Id:
RCV002570180
dbSNP Id:
rs1564351309
gnomAD v4:
9-133356339-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133356339G>A , CM000671.2:g.133356339G>A | GRCh38 |
| NC_000009.10:g.135213015G>A | NCBI36 |
| NG_008477.1:g.5168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.55-19C>T MANE Select | ENSP00000361042.3:n.55-19C>T | |
| ENST00000371974.7:c.55-19C>T | ENSP00000361042.3:n.55-19C>T | |
| ENST00000463965.1:n.278-19C>T | ||
| ENST00000615505.4:c.-222+61C>T | ENSP00000482067.1:n.-222+61C>T | |
| NM_001280787.1:c.-222+61C>T | NP_001267716.1:n.-222+61C>T | |
| NM_003172.3:c.55-19C>T | NP_003163.1:n.55-19C>T | |
| NM_003172.4:c.55-19C>T MANE Select | NP_003163.1:n.55-19C>T |