Linked Data
ClinVar Variation Id:
1987456
ClinVar RCV Id:
RCV002805768
dbSNP Id:
rs370473537
ExAC:
16:58752606 C / T
gnomAD v2:
16-58752606-C-T
gnomAD v3:
16-58718702-C-T
gnomAD v4:
16-58718702-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58718702C>T , CM000678.2:g.58718702C>T | GRCh38 |
| NC_000016.9:g.58752606C>T , CM000678.1:g.58752606C>T | GRCh37 |
| NC_000016.8:g.57310107C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245206.10:c.436-14G>A MANE Select | ENSP00000245206.5:n.436-14G>A | |
| ENST00000245206.9:c.436-14G>A | ENSP00000245206.5:n.436-14G>A | |
| ENST00000434819.2:c.307-14G>A | ENSP00000394100.2:n.307-14G>A | |
| ENST00000496461.5:n.510-14G>A | ||
| ENST00000564400.5:n.550-14G>A | ||
| ENST00000568368.1:c.*130-14G>A | ENSP00000456205.1:n.*130-14G>A | |
| NM_001286220.1:c.307-14G>A | NP_001273149.1:n.307-14G>A | |
| NM_002080.3:c.436-14G>A | NP_002071.2:n.436-14G>A | |
| NM_002080.4:c.436-14G>A MANE Select | NP_002071.2:n.436-14G>A | |
| NM_001286220.2:c.307-14G>A | NP_001273149.1:n.307-14G>A |