Linked Data
ClinVar Variation Id:
1649111
ClinVar RCV Id:
RCV002146222
dbSNP Id:
rs1409807736
gnomAD v2:
16-2096116-G-A
gnomAD v4:
16-2046115-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046115G>A , CM000678.2:g.2046115G>A | GRCh38 |
| NC_000016.9:g.2096116G>A , CM000678.1:g.2096116G>A | GRCh37 |
| NC_000016.8:g.2036117G>A | NCBI36 |
| NG_005895.1:g.1810G>A , LRG_487:g.1810G>A | |
| NG_008412.1:g.6752C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651522.1:c.63+13C>T | ENSP00000498290.1:n.63+13C>T | |
| ENST00000651570.2:c.354+13C>T MANE Select | ENSP00000498421.1:n.354+13C>T | |
| ENST00000651583.1:c.309+13C>T | ENSP00000498821.1:n.309+13C>T | |
| ENST00000219066.5:c.378+13C>T | ENSP00000219066.1:n.378+13C>T | |
| ENST00000561841.1:c.274+13C>T | ||
| ENST00000562120.1:n.87+13C>T | ||
| ENST00000566380.5:c.317+13C>T | ||
| ENST00000568513.5:c.173+165C>T | ||
| NM_002528.5:c.378+13C>T | NP_002519.1:n.378+13C>T | |
| XM_011522505.1:c.378+13C>T | XP_011520807.1:n.378+13C>T | |
| NM_001318193.1:c.378+13C>T | NP_001305122.1:n.378+13C>T | |
| NM_001318194.1:c.24+165C>T | NP_001305123.1:n.24+165C>T | |
| NM_002528.6:c.378+13C>T | NP_002519.1:n.378+13C>T | |
| XM_017023253.1:c.378+13C>T | XP_016878742.1:n.378+13C>T | |
| NM_001318193.2:c.354+13C>T | NP_001305122.2:n.354+13C>T | |
| NM_002528.7:c.354+13C>T MANE Select | NP_002519.2:n.354+13C>T | |
| NM_001318194.2:c.24+165C>T | NP_001305123.1:n.24+165C>T |