Linked Data
dbSNP Id:
rs1695545389
gnomAD v3:
3-14148585-G-A
gnomAD v4:
3-14148585-G-A
MyVariant Identifiers:
chr3:g.14190085G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14148585G>A , CM000665.2:g.14148585G>A | GRCh38 |
| NC_000003.11:g.14190085G>A , CM000665.1:g.14190085G>A | GRCh37 |
| NC_000003.10:g.14165086G>A | NCBI36 |
| NG_011763.1:g.35088C>T , LRG_472:g.35088C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2397C>T MANE Select | ENSP00000285021.8:p.Phe799= | |
| ENST00000285021.11:c.2397C>T | ENSP00000285021.7:p.Phe799= | |
| ENST00000427795.2:n.262C>T | ||
| ENST00000476581.6:c.*1850C>T | ENSP00000424548.1:n.*1850C>T | |
| NM_004628.4:c.2397C>T , LRG_472t1:c.2397C>T | NP_004619.3:p.Phe799= | |
| NR_027299.1:n.2377C>T | ||
| XM_011534092.1:c.2397C>T | XP_011532394.1:p.Phe799= | |
| NM_001354726.1:c.1818C>T | NP_001341655.1:p.Phe606= | |
| NM_001354727.1:c.2391C>T | NP_001341656.1:p.Phe797= | |
| NM_001354729.1:c.2379C>T | NP_001341658.1:p.Phe793= | |
| NM_001354730.1:c.2151C>T | NP_001341659.1:p.Phe717= | |
| NR_148950.1:n.2340C>T | ||
| NR_148951.1:n.2216C>T | ||
| XR_001740256.2:n.2430C>T | ||
| XR_002959580.1:n.2430C>T | ||
| XR_002959581.1:n.4047C>T | ||
| NM_001354727.2:c.2391C>T | NP_001341656.1:p.Phe797= | |
| NM_004628.5:c.2397C>T MANE Select | NP_004619.3:p.Phe799= | |
| NR_148950.2:n.2269C>T | ||
| NR_148951.2:n.2145C>T | ||
| NM_001354726.2:c.1818C>T | NP_001341655.1:p.Phe606= | |
| NM_001354729.2:c.2379C>T | NP_001341658.1:p.Phe793= | |
| NM_001354730.2:c.2151C>T | NP_001341659.1:p.Phe717= |