Linked Data
ClinVar Variation Id:
1971501
ClinVar RCV Id:
RCV002740788
dbSNP Id:
rs74530059
ExAC:
16:58562360 T / A
gnomAD v2:
16-58562360-T-A
gnomAD v3:
16-58528456-T-A
gnomAD v4:
16-58528456-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58528456T>A , CM000678.2:g.58528456T>A | GRCh38 |
| NC_000016.9:g.58562360T>A , CM000678.1:g.58562360T>A | GRCh37 |
| NC_000016.8:g.57119861T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317147.10:c.6453+19A>T MANE Select | ENSP00000320949.5:n.6453+19A>T | |
| ENST00000245138.8:c.468+19A>T | ENSP00000245138.5:n.468+19A>T | |
| ENST00000317147.9:c.6453+19A>T | ENSP00000320949.5:n.6453+19A>T | |
| ENST00000563130.5:n.1328+19A>T | ||
| ENST00000567188.5:c.6438+19A>T | ENSP00000456649.1:n.6438+19A>T | |
| ENST00000569240.5:c.6438+19A>T | ENSP00000455635.1:n.6438+19A>T | |
| NM_001265612.1:c.6438+19A>T | NP_001252541.1:n.6438+19A>T | |
| NM_016284.4:c.6453+19A>T | NP_057368.3:n.6453+19A>T | |
| NR_049763.1:n.6771+19A>T | ||
| NM_016284.5:c.6453+19A>T MANE Select | NP_057368.3:n.6453+19A>T | |
| NM_001265612.2:c.6438+19A>T | NP_001252541.1:n.6438+19A>T | |
| NR_049763.2:n.6711+19A>T |