Linked Data
ClinVar Variation Id:
1533067
ClinVar RCV Id:
RCV002102247
dbSNP Id:
rs1048966989
gnomAD v2:
10-89487034-T-C
gnomAD v3:
10-87727277-T-C
gnomAD v4:
10-87727277-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727277T>C , CM000672.2:g.87727277T>C | GRCh38 |
| NC_000010.10:g.89487034T>C , CM000672.1:g.89487034T>C | GRCh37 |
| NC_000010.9:g.89477014T>C | NCBI36 |
| NG_012150.1:g.72559T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.881-7T>C MANE Select | ENSP00000406157.1:n.881-7T>C | |
| ENST00000361175.8:c.866-7T>C | ENSP00000354436.4:n.866-7T>C | |
| ENST00000456849.1:c.881-7T>C | ENSP00000406157.1:n.881-7T>C | |
| NM_001015880.1:c.881-7T>C | NP_001015880.1:n.881-7T>C | |
| NM_004670.3:c.866-7T>C | NP_004661.2:n.866-7T>C | |
| NM_001015880.2:c.881-7T>C MANE Select | NP_001015880.1:n.881-7T>C | |
| NM_004670.4:c.866-7T>C | NP_004661.2:n.866-7T>C |