Linked Data
ClinVar Variation Id:
3234766
ClinVar RCV Id:
RCV004547114
gnomAD v3:
3-14148817-C-T
gnomAD v4:
3-14148817-C-T
MyVariant Identifiers:
chr3:g.14190317C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14148817C>T , CM000665.2:g.14148817C>T | GRCh38 |
| NC_000003.11:g.14190317C>T , CM000665.1:g.14190317C>T | GRCh37 |
| NC_000003.10:g.14165318C>T | NCBI36 |
| NG_011763.1:g.34856G>A , LRG_472:g.34856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2247G>A MANE Select | ENSP00000285021.8:p.Gly749= | |
| ENST00000285021.11:c.2247G>A | ENSP00000285021.7:p.Gly749= | |
| ENST00000427795.2:n.112G>A | ||
| ENST00000476581.6:c.*1700G>A | ENSP00000424548.1:n.*1700G>A | |
| NM_004628.4:c.2247G>A , LRG_472t1:c.2247G>A | NP_004619.3:p.Gly749= | |
| NR_027299.1:n.2227G>A | ||
| XM_011534092.1:c.2247G>A | XP_011532394.1:p.Gly749= | |
| NM_001354726.1:c.1668G>A | NP_001341655.1:p.Gly556= | |
| NM_001354727.1:c.2241G>A | NP_001341656.1:p.Gly747= | |
| NM_001354729.1:c.2229G>A | NP_001341658.1:p.Gly743= | |
| NM_001354730.1:c.2001G>A | NP_001341659.1:p.Gly667= | |
| NR_148950.1:n.2190G>A | ||
| NR_148951.1:n.2066G>A | ||
| XR_001740256.2:n.2280G>A | ||
| XR_002959580.1:n.2280G>A | ||
| XR_002959581.1:n.3897G>A | ||
| NM_001354727.2:c.2241G>A | NP_001341656.1:p.Gly747= | |
| NM_004628.5:c.2247G>A MANE Select | NP_004619.3:p.Gly749= | |
| NR_148950.2:n.2119G>A | ||
| NR_148951.2:n.1995G>A | ||
| NM_001354726.2:c.1668G>A | NP_001341655.1:p.Gly556= | |
| NM_001354729.2:c.2229G>A | NP_001341658.1:p.Gly743= | |
| NM_001354730.2:c.2001G>A | NP_001341659.1:p.Gly667= |