Linked Data
ClinVar Variation Id:
3014958
ClinVar RCV Id:
RCV003878581
dbSNP Id:
rs1042928629
gnomAD v2:
16-2327870-C-T
gnomAD v3:
16-2277869-C-T
gnomAD v4:
16-2277869-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2277869C>T , CM000678.2:g.2277869C>T | GRCh38 |
| NC_000016.9:g.2327870C>T , CM000678.1:g.2327870C>T | GRCh37 |
| NC_000016.8:g.2267871C>T | NCBI36 |
| NG_011790.1:g.67878G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4909+10G>A MANE Select | ENSP00000301732.5:n.4909+10G>A | |
| ENST00000301732.9:c.4909+10G>A | ENSP00000301732.5:n.4909+10G>A | |
| ENST00000382381.7:c.4735+10G>A | ENSP00000371818.3:n.4735+10G>A | |
| NM_001089.2:c.4909+10G>A | NP_001080.2:n.4909+10G>A | |
| NM_001089.3:c.4909+10G>A MANE Select | NP_001080.2:n.4909+10G>A |