Linked Data
ClinVar Variation Id:
192319
dbSNP Id:
rs150766139
ExAC:
16:2096239 G / A
gnomAD v2:
16-2096239-G-A
gnomAD v3:
16-2046238-G-A
gnomAD v4:
16-2046238-G-A
PubMed:
PMID:25938944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046238G>A , CM000678.2:g.2046238G>A | GRCh38 |
| NC_000016.9:g.2096239G>A , CM000678.1:g.2096239G>A | GRCh37 |
| NC_000016.8:g.2036240G>A | NCBI36 |
| NG_005895.1:g.1933G>A , LRG_487:g.1933G>A | |
| NG_008412.1:g.6629C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651570.2:c.244C>T MANE Select | ENSP00000498421.1:p.Gln82Ter | |
| ENST00000651583.1:c.199C>T | ENSP00000498821.1:p.Gln67Ter | |
| ENST00000219066.5:c.268C>T | ENSP00000219066.1:p.Gln90Ter | |
| ENST00000561841.1:c.164C>T | ||
| ENST00000566380.5:c.207C>T | ||
| ENST00000568513.5:c.173+42C>T | ||
| NM_002528.5:c.268C>T | NP_002519.1:p.Gln90Ter | |
| XM_011522505.1:c.268C>T | XP_011520807.1:p.Gln90Ter | |
| NM_001318193.1:c.268C>T | NP_001305122.1:p.Gln90Ter | |
| NM_001318194.1:c.24+42C>T | NP_001305123.1:n.24+42C>T | |
| NM_002528.6:c.268C>T | NP_002519.1:p.Gln90Ter | |
| XM_017023253.1:c.268C>T | XP_016878742.1:p.Gln90Ter | |
| NM_001318193.2:c.244C>T | NP_001305122.2:p.Gln82Ter | |
| NM_002528.7:c.244C>T MANE Select | NP_002519.2:p.Gln82Ter | |
| NM_001318194.2:c.24+42C>T | NP_001305123.1:n.24+42C>T |