Linked Data
ClinVar Variation Id:
335321
dbSNP Id:
rs140096524
ExAC:
2:242707294 G / A
gnomAD v2:
2-242707294-G-A
gnomAD v3:
2-241767879-G-A
gnomAD v4:
2-241767879-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767879G>A , CM000664.2:g.241767879G>A | GRCh38 |
| NC_000002.11:g.242707294G>A , CM000664.1:g.242707294G>A | GRCh37 |
| NC_000002.10:g.242355967G>A | NCBI36 |
| NG_012012.1:g.38265G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321264.9:c.1476G>A MANE Select | ENSP00000315351.4:p.Pro492= | |
| ENST00000321264.8:c.1476G>A | ENSP00000315351.4:p.Pro492= | |
| ENST00000400769.6:c.*226G>A | ENSP00000383580.2:n.*226G>A | |
| ENST00000403782.5:c.1074G>A | ENSP00000384723.1:p.Pro358= | |
| ENST00000436747.5:c.*2712G>A | ENSP00000400212.1:n.*2712G>A | |
| ENST00000445308.1:c.872G>A | ||
| ENST00000468064.5:n.1366G>A | ||
| ENST00000470343.5:n.957G>A | ||
| ENST00000473126.1:n.675G>A | ||
| ENST00000486953.5:n.1300G>A | ||
| ENST00000610344.1:c.*320G>A | ENSP00000481906.1:n.*320G>A | |
| NM_001287249.1:c.1074G>A | NP_001274178.1:p.Pro358= | |
| NM_152783.4:c.1476G>A | NP_689996.4:p.Pro492= | |
| NR_109778.1:n.1398G>A | ||
| XM_011511734.1:c.1596G>A | XP_011510036.1:p.Pro532= | |
| XM_011511735.1:c.1554G>A | XP_011510037.1:p.Pro518= | |
| XM_011511736.1:c.1518G>A | XP_011510038.1:p.Pro506= | |
| XM_011511754.1:c.1035G>A | XP_011510056.1:p.Pro345= | |
| XM_011511755.1:c.1026G>A | XP_011510057.1:p.Pro342= | |
| XM_011511756.1:c.1023G>A | XP_011510058.1:p.Pro341= | |
| XR_923004.1:n.2108G>A | ||
| XR_923007.1:n.1818G>A | ||
| XR_923011.1:n.1919G>A | ||
| NM_001352824.1:c.915G>A | NP_001339753.1:p.Pro305= | |
| XM_011511734.2:c.1596G>A | XP_011510036.1:p.Pro532= | |
| XM_011511735.2:c.1554G>A | XP_011510037.1:p.Pro518= | |
| XM_011511736.2:c.1518G>A | XP_011510038.1:p.Pro506= | |
| XM_011511756.2:c.1023G>A | XP_011510058.1:p.Pro341= | |
| XM_024453102.1:c.1368G>A | XP_024308870.1:p.Pro456= | |
| XR_001738918.2:n.1850G>A | ||
| XR_001738919.2:n.1784G>A | ||
| XR_923004.3:n.2107G>A | ||
| XR_923007.3:n.1817G>A | ||
| XR_923011.3:n.1918G>A | ||
| NM_152783.5:c.1476G>A MANE Select | NP_689996.4:p.Pro492= | |
| NM_001287249.2:c.1074G>A | NP_001274178.1:p.Pro358= | |
| NM_001352824.2:c.915G>A | NP_001339753.1:p.Pro305= | |
| NR_109778.2:n.1347G>A |