Linked Data
ClinVar Variation Id:
1641784
ClinVar RCV Id:
RCV002140334
dbSNP Id:
rs753838845
ExAC:
16:67976883 C / T
gnomAD v2:
16-67976883-C-T
gnomAD v3:
16-67942980-C-T
gnomAD v4:
16-67942980-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942980C>T , CM000678.2:g.67942980C>T | GRCh38 |
| NC_000016.9:g.67976883C>T , CM000678.1:g.67976883C>T | GRCh37 |
| NC_000016.8:g.66534384C>T | NCBI36 |
| NG_009778.1:g.6133G>A | |
| NG_033098.1:g.30715G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.312-4G>A MANE Select | ENSP00000264005.5:n.312-4G>A | |
| ENST00000264005.9:c.312-4G>A | ENSP00000264005.5:n.312-4G>A | |
| ENST00000570369.5:c.40-4G>A | ||
| ENST00000570980.1:c.96-4G>A | ENSP00000464651.1:n.96-4G>A | |
| ENST00000575277.1:n.90-4G>A | ||
| ENST00000575467.5:c.*7-4G>A | ENSP00000460653.1:n.*7-4G>A | |
| NM_000229.1:c.312-4G>A | NP_000220.1:n.312-4G>A | |
| NM_000229.2:c.312-4G>A MANE Select | NP_000220.1:n.312-4G>A |