Linked Data
ClinVar Variation Id:
2961062
ClinVar RCV Id:
RCV003819773
gnomAD v4:
3-14148922-A-G
MyVariant Identifiers:
chr3:g.14190422A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14148922A>G , CM000665.2:g.14148922A>G | GRCh38 |
| NC_000003.11:g.14190422A>G , CM000665.1:g.14190422A>G | GRCh37 |
| NC_000003.10:g.14165423A>G | NCBI36 |
| NG_011763.1:g.34751T>C , LRG_472:g.34751T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2142T>C MANE Select | ENSP00000285021.8:p.Ala714= | |
| ENST00000285021.11:c.2142T>C | ENSP00000285021.7:p.Ala714= | |
| ENST00000427795.2:n.7T>C | ||
| ENST00000476581.6:c.*1595T>C | ENSP00000424548.1:n.*1595T>C | |
| NM_004628.4:c.2142T>C , LRG_472t1:c.2142T>C | NP_004619.3:p.Ala714= | |
| NR_027299.1:n.2122T>C | ||
| XM_011534092.1:c.2142T>C | XP_011532394.1:p.Ala714= | |
| NM_001354726.1:c.1563T>C | NP_001341655.1:p.Ala521= | |
| NM_001354727.1:c.2136T>C | NP_001341656.1:p.Ala712= | |
| NM_001354729.1:c.2124T>C | NP_001341658.1:p.Ala708= | |
| NM_001354730.1:c.1896T>C | NP_001341659.1:p.Ala632= | |
| NR_148950.1:n.2085T>C | ||
| NR_148951.1:n.1961T>C | ||
| XR_001740256.2:n.2175T>C | ||
| XR_002959580.1:n.2175T>C | ||
| XR_002959581.1:n.3792T>C | ||
| NM_001354727.2:c.2136T>C | NP_001341656.1:p.Ala712= | |
| NM_004628.5:c.2142T>C MANE Select | NP_004619.3:p.Ala714= | |
| NR_148950.2:n.2014T>C | ||
| NR_148951.2:n.1890T>C | ||
| NM_001354726.2:c.1563T>C | NP_001341655.1:p.Ala521= | |
| NM_001354729.2:c.2124T>C | NP_001341658.1:p.Ala708= | |
| NM_001354730.2:c.1896T>C | NP_001341659.1:p.Ala632= |