Linked Data
ClinVar Variation Id:
2962060
ClinVar RCV Id:
RCV003824690
dbSNP Id:
rs761060771
ExAC:
16:2328270 C / A
gnomAD v2:
16-2328270-C-A
gnomAD v3:
16-2278269-C-A
gnomAD v4:
16-2278269-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278269C>A , CM000678.2:g.2278269C>A | GRCh38 |
| NC_000016.9:g.2328270C>A , CM000678.1:g.2328270C>A | GRCh37 |
| NC_000016.8:g.2268271C>A | NCBI36 |
| NG_011790.1:g.67478G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4718+19G>T MANE Select | ENSP00000301732.5:n.4718+19G>T | |
| ENST00000301732.9:c.4718+19G>T | ENSP00000301732.5:n.4718+19G>T | |
| ENST00000382381.7:c.4544+19G>T | ENSP00000371818.3:n.4544+19G>T | |
| NM_001089.2:c.4718+19G>T | NP_001080.2:n.4718+19G>T | |
| NM_001089.3:c.4718+19G>T MANE Select | NP_001080.2:n.4718+19G>T |