Linked Data
ClinVar Variation Id:
218092
dbSNP Id:
rs372946560
ExAC:
16:2093567 C / T
gnomAD v2:
16-2093567-C-T
gnomAD v3:
16-2043566-C-T
gnomAD v4:
16-2043566-C-T
PubMed:
PMID:26559593
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2043566C>T , CM000678.2:g.2043566C>T | GRCh38 |
| NC_000016.9:g.2093567C>T , CM000678.1:g.2093567C>T | GRCh37 |
| NC_000016.8:g.2033568C>T | NCBI36 |
| NG_008412.1:g.9301G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651522.1:c.394+1G>A | ENSP00000498290.1:n.394+1G>A | |
| ENST00000651570.2:c.685+1G>A MANE Select | ENSP00000498421.1:n.685+1G>A | |
| ENST00000651583.1:c.469+1G>A | ENSP00000498821.1:n.469+1G>A | |
| ENST00000219066.5:c.709+1G>A | ENSP00000219066.1:n.709+1G>A | |
| ENST00000561841.1:c.605+1G>A | ||
| ENST00000562120.1:n.419G>A | ||
| ENST00000562951.5:n.190+1G>A | ||
| ENST00000565406.5:n.357+1G>A | ||
| ENST00000566380.5:c.477+1G>A | ||
| ENST00000567727.5:n.237+1G>A | ||
| ENST00000568513.5:c.504+1G>A | ||
| NM_002528.5:c.709+1G>A | NP_002519.1:n.709+1G>A | |
| XM_011522505.1:c.538+1G>A | XP_011520807.1:n.538+1G>A | |
| NM_001318193.1:c.538+1G>A | NP_001305122.1:n.538+1G>A | |
| NM_001318194.1:c.355+1G>A | NP_001305123.1:n.355+1G>A | |
| NM_002528.6:c.709+1G>A | NP_002519.1:n.709+1G>A | |
| XM_017023253.1:c.709+1G>A | XP_016878742.1:n.709+1G>A | |
| NM_001318193.2:c.514+1G>A | NP_001305122.2:n.514+1G>A | |
| NM_002528.7:c.685+1G>A MANE Select | NP_002519.2:n.685+1G>A | |
| NM_001318194.2:c.355+1G>A | NP_001305123.1:n.355+1G>A |