Linked Data
dbSNP Id:
rs769146146
ExAC:
3:14199725 C / G
gnomAD v2:
3-14199725-C-G
gnomAD v4:
3-14158225-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14158225C>G , CM000665.2:g.14158225C>G | GRCh38 |
| NC_000003.11:g.14199725C>G , CM000665.1:g.14199725C>G | GRCh37 |
| NC_000003.10:g.14174727C>G | NCBI36 |
| NG_011763.1:g.25448G>C , LRG_472:g.25448G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.1658G>C MANE Select | ENSP00000285021.8:p.Gly553Ala | |
| ENST00000285021.11:c.1658G>C | ENSP00000285021.7:p.Gly553Ala | |
| ENST00000476581.6:c.*1111G>C | ENSP00000424548.1:n.*1111G>C | |
| NM_004628.4:c.1658G>C , LRG_472t1:c.1658G>C | NP_004619.3:p.Gly553Ala | |
| NR_027299.1:n.1638G>C | ||
| XM_011534092.1:c.1658G>C | XP_011532394.1:p.Gly553Ala | |
| XM_011534093.1:c.1658G>C | XP_011532395.1:p.Gly553Ala | |
| NM_001354726.1:c.1079G>C | NP_001341655.1:p.Gly360Ala | |
| NM_001354727.1:c.1658G>C | NP_001341656.1:p.Gly553Ala | |
| NM_001354729.1:c.1640G>C | NP_001341658.1:p.Gly547Ala | |
| NM_001354730.1:c.1626+32G>C | NP_001341659.1:n.1626+32G>C | |
| NR_148950.1:n.1762G>C | ||
| NR_148951.1:n.1638G>C | ||
| XR_001740256.2:n.1691G>C | ||
| XR_002959580.1:n.1691G>C | ||
| XR_002959581.1:n.1691G>C | ||
| NM_001354727.2:c.1658G>C | NP_001341656.1:p.Gly553Ala | |
| NM_004628.5:c.1658G>C MANE Select | NP_004619.3:p.Gly553Ala | |
| NR_148950.2:n.1691G>C | ||
| NR_148951.2:n.1567G>C | ||
| NM_001354726.2:c.1079G>C | NP_001341655.1:p.Gly360Ala | |
| NM_001354729.2:c.1640G>C | NP_001341658.1:p.Gly547Ala | |
| NM_001354730.2:c.1626+32G>C | NP_001341659.1:n.1626+32G>C |