Linked Data
ClinVar Variation Id:
135472
dbSNP Id:
rs3731177
ExAC:
3:14187482 T / G
gnomAD v2:
3-14187482-T-G
gnomAD v3:
3-14145982-T-G
gnomAD v4:
3-14145982-T-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14145982T>G , CM000665.2:g.14145982T>G | GRCh38 |
| NC_000003.11:g.14187482T>G , CM000665.1:g.14187482T>G | GRCh37 |
| NC_000003.10:g.14162483T>G | NCBI36 |
| NG_011763.1:g.37691A>C , LRG_472:g.37691A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2782A>C MANE Select | ENSP00000285021.8:p.Lys928Gln | |
| ENST00000285021.11:c.2782A>C | ENSP00000285021.7:p.Lys928Gln | |
| ENST00000476581.6:c.*2235A>C | ENSP00000424548.1:n.*2235A>C | |
| ENST00000601399.3:n.689+299T>G | ||
| ENST00000608606.1:c.598+299T>G | ||
| ENST00000626721.1:n.588+299T>G | ||
| NM_004628.4:c.2782A>C , LRG_472t1:c.2782A>C | NP_004619.3:p.Lys928Gln | |
| NR_027299.1:n.2762A>C | ||
| NM_001354726.1:c.2203A>C | NP_001341655.1:p.Lys735Gln | |
| NM_001354727.1:c.2776A>C | NP_001341656.1:p.Lys926Gln | |
| NM_001354729.1:c.2764A>C | NP_001341658.1:p.Lys922Gln | |
| NM_001354730.1:c.2536A>C | NP_001341659.1:p.Lys846Gln | |
| NR_148950.1:n.2725A>C | ||
| NR_148951.1:n.2601A>C | ||
| XR_001740256.2:n.3089A>C | ||
| XR_002959580.1:n.3164A>C | ||
| XR_002959581.1:n.4432A>C | ||
| NM_001354727.2:c.2776A>C | NP_001341656.1:p.Lys926Gln | |
| NM_004628.5:c.2782A>C MANE Select | NP_004619.3:p.Lys928Gln | |
| NR_148950.2:n.2654A>C | ||
| NR_148951.2:n.2530A>C | ||
| NM_001354726.2:c.2203A>C | NP_001341655.1:p.Lys735Gln | |
| NM_001354729.2:c.2764A>C | NP_001341658.1:p.Lys922Gln | |
| NM_001354730.2:c.2536A>C | NP_001341659.1:p.Lys846Gln |