Linked Data
ClinVar Variation Id:
142299
dbSNP Id:
rs587777588
ExAC:
3:12645760 C / T
gnomAD v2:
3-12645760-C-T
gnomAD v3:
3-12604261-C-T
gnomAD v4:
3-12604261-C-T
PubMed:
PMID:24777450
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12604261C>T , CM000665.2:g.12604261C>T | GRCh38 |
| NC_000003.11:g.12645760C>T , CM000665.1:g.12645760C>T | GRCh37 |
| NC_000003.10:g.12620760C>T | NCBI36 |
| NG_007467.1:g.64919G>A , LRG_413:g.64919G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416093.2:c.*386G>A | ENSP00000391265.2:n.*386G>A | |
| ENST00000423275.6:c.*386G>A | ENSP00000401088.1:n.*386G>A | |
| ENST00000432427.3:c.29G>A | ||
| ENST00000465826.6:n.300G>A | ||
| ENST00000491290.2:n.1086G>A | ||
| ENST00000684903.1:c.*386G>A | ENSP00000508612.1:n.*386G>A | |
| ENST00000685348.1:c.*386G>A | ENSP00000510285.1:n.*386G>A | |
| ENST00000685437.1:c.610G>A | ENSP00000508794.1:p.Ala204Thr | |
| ENST00000685653.1:c.709G>A | ENSP00000509968.1:p.Ala237Thr | |
| ENST00000685738.1:c.709G>A | ENSP00000510156.1:p.Ala237Thr | |
| ENST00000685959.1:c.709G>A | ENSP00000510452.1:p.Ala237Thr | |
| ENST00000686409.1:n.1309G>A | ||
| ENST00000686455.1:n.1072G>A | ||
| ENST00000686479.1:n.1080G>A | ||
| ENST00000686762.1:c.709G>A | ENSP00000509767.1:p.Ala237Thr | |
| ENST00000687257.1:n.945G>A | ||
| ENST00000687326.1:c.709G>A | ENSP00000509665.1:p.Ala237Thr | |
| ENST00000687486.1:c.29G>A | ||
| ENST00000687505.1:n.827G>A | ||
| ENST00000687923.1:c.610G>A | ENSP00000510255.1:p.Ala204Thr | |
| ENST00000687940.1:n.1086G>A | ||
| ENST00000688269.1:n.1317G>A | ||
| ENST00000688326.1:c.29G>A | ||
| ENST00000688444.1:n.1035G>A | ||
| ENST00000688543.1:c.610G>A | ENSP00000509612.1:p.Ala204Thr | |
| ENST00000688625.1:c.*287G>A | ENSP00000509522.1:n.*287G>A | |
| ENST00000688803.1:n.940G>A | ||
| ENST00000689033.1:c.709G>A | ENSP00000508983.1:p.Ala237Thr | |
| ENST00000689097.1:c.*386G>A | ENSP00000509756.1:n.*386G>A | |
| ENST00000689389.1:c.709G>A | ENSP00000510213.1:p.Ala237Thr | |
| ENST00000689418.1:c.*386G>A | ENSP00000509467.1:n.*386G>A | |
| ENST00000689481.1:c.*386G>A | ENSP00000510248.1:n.*386G>A | |
| ENST00000689540.1:n.859G>A | ||
| ENST00000689876.1:c.709G>A | ENSP00000508535.1:p.Ala237Thr | |
| ENST00000689914.1:c.709G>A | ENSP00000509847.1:p.Ala237Thr | |
| ENST00000690397.1:c.610G>A | ENSP00000508730.1:p.Ala204Thr | |
| ENST00000690460.1:c.709G>A | ENSP00000509106.1:p.Ala237Thr | |
| ENST00000690625.1:n.1012G>A | ||
| ENST00000691268.1:c.262-3846G>A | ||
| ENST00000691396.1:c.*502G>A | ENSP00000510712.1:n.*502G>A | |
| ENST00000691724.1:c.709G>A | ENSP00000509255.1:p.Ala237Thr | |
| ENST00000691779.1:c.*287G>A | ENSP00000508592.1:n.*287G>A | |
| ENST00000691899.1:c.709G>A | ENSP00000508763.1:p.Ala237Thr | |
| ENST00000692093.1:c.610G>A | ENSP00000509669.1:p.Ala204Thr | |
| ENST00000692311.1:n.1082G>A | ||
| ENST00000692558.1:n.1074G>A | ||
| ENST00000692773.1:c.*386G>A | ENSP00000509055.1:n.*386G>A | |
| ENST00000692830.1:c.*454G>A | ENSP00000509461.1:n.*454G>A | |
| ENST00000693069.1:c.610G>A | ENSP00000510072.1:p.Ala204Thr | |
| ENST00000693312.1:c.484G>A | ENSP00000508686.1:p.Ala162Thr | |
| ENST00000693664.1:c.709G>A | ENSP00000509614.1:p.Ala237Thr | |
| ENST00000693705.1:c.*386G>A | ENSP00000510697.1:n.*386G>A | |
| ENST00000251849.9:c.709G>A MANE Select | ENSP00000251849.4:p.Ala237Thr | |
| ENST00000442415.7:c.709G>A | ENSP00000401888.2:p.Ala237Thr | |
| ENST00000251849.8:c.709G>A | ENSP00000251849.4:p.Ala237Thr | |
| ENST00000416093.1:c.*287G>A | ENSP00000391265.1:n.*287G>A | |
| ENST00000423275.5:c.*386G>A | ENSP00000401088.1:n.*386G>A | |
| ENST00000432427.2:c.346G>A | ENSP00000398591.2:p.Ala116Thr | |
| ENST00000442415.6:c.709G>A | ENSP00000401888.2:p.Ala237Thr | |
| ENST00000491290.1:n.230G>A | ||
| NM_002880.3:c.709G>A , LRG_413t1:c.709G>A | NP_002871.1:p.Ala237Thr | |
| XM_005265355.1:c.709G>A | XP_005265412.1:p.Ala237Thr | |
| XM_005265357.1:c.610G>A | XP_005265414.1:p.Ala204Thr | |
| XM_005265358.3:c.466G>A | XP_005265415.1:p.Ala156Thr | |
| XM_005265359.3:c.367G>A | XP_005265416.1:p.Ala123Thr | |
| XM_005265360.1:c.709G>A | XP_005265417.1:p.Ala237Thr | |
| XM_011533974.1:c.709G>A | XP_011532276.1:p.Ala237Thr | |
| XM_011533975.1:c.466G>A | XP_011532277.1:p.Ala156Thr | |
| NM_001354689.1:c.709G>A | NP_001341618.1:p.Ala237Thr | |
| NM_001354690.1:c.709G>A | NP_001341619.1:p.Ala237Thr | |
| NM_001354691.1:c.466G>A | NP_001341620.1:p.Ala156Thr | |
| NM_001354692.1:c.466G>A | NP_001341621.1:p.Ala156Thr | |
| NM_001354693.1:c.610G>A | NP_001341622.1:p.Ala204Thr | |
| NM_001354694.1:c.466G>A | NP_001341623.1:p.Ala156Thr | |
| NM_001354695.1:c.367G>A | NP_001341624.1:p.Ala123Thr | |
| NR_148940.1:n.1124G>A | ||
| NR_148941.1:n.1124G>A | ||
| NR_148942.1:n.1124G>A | ||
| XM_011533974.3:c.709G>A | XP_011532276.1:p.Ala237Thr | |
| XM_017006966.1:c.610G>A | XP_016862455.1:p.Ala204Thr | |
| XR_001740227.1:n.941G>A | ||
| NM_001354689.3:c.709G>A | NP_001341618.1:p.Ala237Thr | |
| NM_001354690.2:c.709G>A | NP_001341619.1:p.Ala237Thr | |
| NM_001354691.2:c.466G>A | NP_001341620.1:p.Ala156Thr | |
| NM_001354692.2:c.466G>A | NP_001341621.1:p.Ala156Thr | |
| NM_001354693.2:c.610G>A | NP_001341622.1:p.Ala204Thr | |
| NM_001354694.2:c.466G>A | NP_001341623.1:p.Ala156Thr | |
| NM_001354695.2:c.367G>A | NP_001341624.1:p.Ala123Thr | |
| NR_148940.2:n.1040G>A | ||
| NR_148941.2:n.1040G>A | ||
| NR_148942.2:n.1040G>A | ||
| NM_001354690.3:c.709G>A | NP_001341619.1:p.Ala237Thr | |
| NM_001354691.3:c.466G>A | NP_001341620.1:p.Ala156Thr | |
| NM_001354692.3:c.466G>A | NP_001341621.1:p.Ala156Thr | |
| NM_001354693.3:c.610G>A | NP_001341622.1:p.Ala204Thr | |
| NM_001354694.3:c.466G>A | NP_001341623.1:p.Ala156Thr | |
| NM_001354695.3:c.367G>A | NP_001341624.1:p.Ala123Thr | |
| NM_002880.4:c.709G>A MANE Select | NP_002871.1:p.Ala237Thr | |
| NR_148940.3:n.1040G>A | ||
| NR_148941.3:n.1040G>A | ||
| NR_148942.3:n.1040G>A |