Linked Data
ClinVar Variation Id:
909770
ClinVar RCV Id:
RCV001161064
dbSNP Id:
rs143895125
gnomAD v2:
6-97338691-G-A
gnomAD v3:
6-96890815-G-A
gnomAD v4:
6-96890815-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96890815G>A , CM000668.2:g.96890815G>A | GRCh38 |
| NC_000006.11:g.97338691G>A , CM000668.1:g.97338691G>A | GRCh37 |
| NC_000006.10:g.97445412G>A | NCBI36 |
| NG_013379.1:g.12077C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316149.8:c.*289C>T MANE Select | ENSP00000358272.4:n.*289C>T | |
| ENST00000316149.7:c.*289C>T | ENSP00000358272.4:n.*289C>T | |
| NM_014165.3:c.*289C>T | NP_054884.1:n.*289C>T | |
| NM_014165.4:c.*289C>T MANE Select | NP_054884.1:n.*289C>T |