Linked Data
ClinVar Variation Id:
958632
dbSNP Id:
rs750435227
ExAC:
16:2096229 T / A
gnomAD v2:
16-2096229-T-A
gnomAD v4:
16-2046228-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046228T>A , CM000678.2:g.2046228T>A | GRCh38 |
| NC_000016.9:g.2096229T>A , CM000678.1:g.2096229T>A | GRCh37 |
| NC_000016.8:g.2036230T>A | NCBI36 |
| NG_005895.1:g.1923T>A , LRG_487:g.1923T>A | |
| NG_008412.1:g.6639A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651570.2:c.254A>T MANE Select | ENSP00000498421.1:p.Gln85Leu | |
| ENST00000651583.1:c.209A>T | ENSP00000498821.1:p.Gln70Leu | |
| ENST00000219066.5:c.278A>T | ENSP00000219066.1:p.Gln93Leu | |
| ENST00000561841.1:c.174A>T | ||
| ENST00000566380.5:c.217A>T | ||
| ENST00000568513.5:c.173+52A>T | ||
| NM_002528.5:c.278A>T | NP_002519.1:p.Gln93Leu | |
| XM_011522505.1:c.278A>T | XP_011520807.1:p.Gln93Leu | |
| NM_001318193.1:c.278A>T | NP_001305122.1:p.Gln93Leu | |
| NM_001318194.1:c.24+52A>T | NP_001305123.1:n.24+52A>T | |
| NM_002528.6:c.278A>T | NP_002519.1:p.Gln93Leu | |
| XM_017023253.1:c.278A>T | XP_016878742.1:p.Gln93Leu | |
| NM_001318193.2:c.254A>T | NP_001305122.2:p.Gln85Leu | |
| NM_002528.7:c.254A>T MANE Select | NP_002519.2:p.Gln85Leu | |
| NM_001318194.2:c.24+52A>T | NP_001305123.1:n.24+52A>T |