Linked Data
ClinVar Variation Id:
1924760
ClinVar RCV Id:
RCV002614032
dbSNP Id:
rs574597157
ExAC:
16:58753179 G / A
gnomAD v2:
16-58753179-G-A
gnomAD v3:
16-58719275-G-A
gnomAD v4:
16-58719275-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58719275G>A , CM000678.2:g.58719275G>A | GRCh38 |
| NC_000016.9:g.58753179G>A , CM000678.1:g.58753179G>A | GRCh37 |
| NC_000016.8:g.57310680G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245206.10:c.376-20C>T MANE Select | ENSP00000245206.5:n.376-20C>T | |
| ENST00000245206.9:c.376-20C>T | ENSP00000245206.5:n.376-20C>T | |
| ENST00000434819.2:c.247-20C>T | ENSP00000394100.2:n.247-20C>T | |
| ENST00000496461.5:n.450-20C>T | ||
| ENST00000564400.5:n.490-20C>T | ||
| ENST00000568368.1:c.*70-20C>T | ENSP00000456205.1:n.*70-20C>T | |
| NM_001286220.1:c.247-20C>T | NP_001273149.1:n.247-20C>T | |
| NM_002080.3:c.376-20C>T | NP_002071.2:n.376-20C>T | |
| NM_002080.4:c.376-20C>T MANE Select | NP_002071.2:n.376-20C>T | |
| NM_001286220.2:c.247-20C>T | NP_001273149.1:n.247-20C>T |