Linked Data
ClinVar Variation Id:
1987823
ClinVar RCV Id:
RCV002790154
dbSNP Id:
rs200830701
ExAC:
16:2367785 C / T
gnomAD v2:
16-2367785-C-T
gnomAD v3:
16-2317784-C-T
gnomAD v4:
16-2317784-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2317784C>T , CM000678.2:g.2317784C>T | GRCh38 |
| NC_000016.9:g.2367785C>T , CM000678.1:g.2367785C>T | GRCh37 |
| NC_000016.8:g.2307786C>T | NCBI36 |
| NG_011790.1:g.27963G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.874-20G>A MANE Select | ENSP00000301732.5:n.874-20G>A | |
| ENST00000301732.9:c.874-20G>A | ENSP00000301732.5:n.874-20G>A | |
| ENST00000382381.7:c.874-20G>A | ENSP00000371818.3:n.874-20G>A | |
| ENST00000563623.5:n.1437-20G>A | ||
| NM_001089.2:c.874-20G>A | NP_001080.2:n.874-20G>A | |
| NM_001089.3:c.874-20G>A MANE Select | NP_001080.2:n.874-20G>A |