Linked Data
dbSNP Id:
rs1232809838
gnomAD v2:
3-14190098-G-C
gnomAD v3:
3-14148598-G-C
gnomAD v4:
3-14148598-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14148598G>C , CM000665.2:g.14148598G>C | GRCh38 |
| NC_000003.11:g.14190098G>C , CM000665.1:g.14190098G>C | GRCh37 |
| NC_000003.10:g.14165099G>C | NCBI36 |
| NG_011763.1:g.35075C>G , LRG_472:g.35075C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2384C>G MANE Select | ENSP00000285021.8:p.Thr795Ser | |
| ENST00000285021.11:c.2384C>G | ENSP00000285021.7:p.Thr795Ser | |
| ENST00000427795.2:n.249C>G | ||
| ENST00000476581.6:c.*1837C>G | ENSP00000424548.1:n.*1837C>G | |
| NM_004628.4:c.2384C>G , LRG_472t1:c.2384C>G | NP_004619.3:p.Thr795Ser | |
| NR_027299.1:n.2364C>G | ||
| XM_011534092.1:c.2384C>G | XP_011532394.1:p.Thr795Ser | |
| NM_001354726.1:c.1805C>G | NP_001341655.1:p.Thr602Ser | |
| NM_001354727.1:c.2378C>G | NP_001341656.1:p.Thr793Ser | |
| NM_001354729.1:c.2366C>G | NP_001341658.1:p.Thr789Ser | |
| NM_001354730.1:c.2138C>G | NP_001341659.1:p.Thr713Ser | |
| NR_148950.1:n.2327C>G | ||
| NR_148951.1:n.2203C>G | ||
| XR_001740256.2:n.2417C>G | ||
| XR_002959580.1:n.2417C>G | ||
| XR_002959581.1:n.4034C>G | ||
| NM_001354727.2:c.2378C>G | NP_001341656.1:p.Thr793Ser | |
| NM_004628.5:c.2384C>G MANE Select | NP_004619.3:p.Thr795Ser | |
| NR_148950.2:n.2256C>G | ||
| NR_148951.2:n.2132C>G | ||
| NM_001354726.2:c.1805C>G | NP_001341655.1:p.Thr602Ser | |
| NM_001354729.2:c.2366C>G | NP_001341658.1:p.Thr789Ser | |
| NM_001354730.2:c.2138C>G | NP_001341659.1:p.Thr713Ser |