Linked Data
ClinVar Variation Id:
343571
ClinVar RCV Id:
RCV000669738
dbSNP Id:
rs3731130
ExAC:
3:14199844 C / T
gnomAD v2:
3-14199844-C-T
gnomAD v3:
3-14158344-C-T
gnomAD v4:
3-14158344-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14158344C>T , CM000665.2:g.14158344C>T | GRCh38 |
| NC_000003.11:g.14199844C>T , CM000665.1:g.14199844C>T | GRCh37 |
| NC_000003.10:g.14174846C>T | NCBI36 |
| NG_011763.1:g.25329G>A , LRG_472:g.25329G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.1539G>A MANE Select | ENSP00000285021.8:p.Met513Ile | |
| ENST00000285021.11:c.1539G>A | ENSP00000285021.7:p.Met513Ile | |
| ENST00000476581.6:c.*992G>A | ENSP00000424548.1:n.*992G>A | |
| NM_004628.4:c.1539G>A , LRG_472t1:c.1539G>A | NP_004619.3:p.Met513Ile | |
| NR_027299.1:n.1519G>A | ||
| XM_011534092.1:c.1539G>A | XP_011532394.1:p.Met513Ile | |
| XM_011534093.1:c.1539G>A | XP_011532395.1:p.Met513Ile | |
| NM_001354726.1:c.960G>A | NP_001341655.1:p.Met320Ile | |
| NM_001354727.1:c.1539G>A | NP_001341656.1:p.Met513Ile | |
| NM_001354729.1:c.1521G>A | NP_001341658.1:p.Met507Ile | |
| NM_001354730.1:c.1539G>A | NP_001341659.1:p.Met513Ile | |
| NR_148950.1:n.1643G>A | ||
| NR_148951.1:n.1519G>A | ||
| XR_001740256.2:n.1572G>A | ||
| XR_002959580.1:n.1572G>A | ||
| XR_002959581.1:n.1572G>A | ||
| NM_001354727.2:c.1539G>A | NP_001341656.1:p.Met513Ile | |
| NM_004628.5:c.1539G>A MANE Select | NP_004619.3:p.Met513Ile | |
| NR_148950.2:n.1572G>A | ||
| NR_148951.2:n.1448G>A | ||
| NM_001354726.2:c.960G>A | NP_001341655.1:p.Met320Ile | |
| NM_001354729.2:c.1521G>A | NP_001341658.1:p.Met507Ile | |
| NM_001354730.2:c.1539G>A | NP_001341659.1:p.Met513Ile |