Linked Data
ClinVar Variation Id:
1674447
ClinVar RCV Id:
RCV002208264
dbSNP Id:
rs140073258
ExAC:
16:58752413 C / T
gnomAD v2:
16-58752413-C-T
gnomAD v3:
16-58718509-C-T
gnomAD v4:
16-58718509-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58718509C>T , CM000678.2:g.58718509C>T | GRCh38 |
| NC_000016.9:g.58752413C>T , CM000678.1:g.58752413C>T | GRCh37 |
| NC_000016.8:g.57309914C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245206.10:c.597+18G>A MANE Select | ENSP00000245206.5:n.597+18G>A | |
| ENST00000245206.9:c.597+18G>A | ENSP00000245206.5:n.597+18G>A | |
| ENST00000434819.2:c.468+18G>A | ENSP00000394100.2:n.468+18G>A | |
| ENST00000496461.5:n.689G>A | ||
| ENST00000564400.5:n.711+18G>A | ||
| NM_001286220.1:c.468+18G>A | NP_001273149.1:n.468+18G>A | |
| NM_002080.3:c.597+18G>A | NP_002071.2:n.597+18G>A | |
| NM_002080.4:c.597+18G>A MANE Select | NP_002071.2:n.597+18G>A | |
| NM_001286220.2:c.468+18G>A | NP_001273149.1:n.468+18G>A |