Linked Data
ClinVar Variation Id:
1046550
ClinVar RCV Id:
RCV001351122
dbSNP Id:
rs368898845
ExAC:
2:220416290 C / T
gnomAD v2:
2-220416290-C-T
gnomAD v3:
2-219551568-C-T
gnomAD v4:
2-219551568-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219551568C>T , CM000664.2:g.219551568C>T | GRCh38 |
| NC_000002.11:g.220416290C>T , CM000664.1:g.220416290C>T | GRCh37 |
| NC_000002.10:g.220124534C>T | NCBI36 |
| NG_016977.1:g.24979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404537.6:c.5644G>A MANE Select | ENSP00000385636.1:p.Ala1882Thr | |
| ENST00000373876.5:c.5368G>A | ENSP00000362983.1:p.Ala1790Thr | |
| ENST00000404537.5:c.5644G>A | ENSP00000385636.1:p.Ala1882Thr | |
| ENST00000462534.5:n.509G>A | ||
| ENST00000465149.1:n.4541G>A | ||
| ENST00000489804.5:n.515G>A | ||
| NM_015311.2:c.5644G>A | NP_056126.1:p.Ala1882Thr | |
| XM_005246424.3:c.5368G>A | XP_005246481.1:p.Ala1790Thr | |
| XM_011510854.1:c.5701G>A | XP_011509156.1:p.Ala1901Thr | |
| XM_011510855.1:c.5701G>A | XP_011509157.1:p.Ala1901Thr | |
| XM_011510856.1:c.5701G>A | XP_011509158.1:p.Ala1901Thr | |
| XM_011510857.1:c.5644G>A | XP_011509159.1:p.Ala1882Thr | |
| XM_011510858.1:c.5701G>A | XP_011509160.1:p.Ala1901Thr | |
| XM_011510859.1:c.5425G>A | XP_011509161.1:p.Ala1809Thr | |
| XM_011510860.1:c.5425G>A | XP_011509162.1:p.Ala1809Thr | |
| XM_011510861.1:c.5149G>A | XP_011509163.1:p.Ala1717Thr | |
| XM_011510857.2:c.5644G>A | XP_011509159.1:p.Ala1882Thr | |
| XM_017003696.2:c.5644G>A | XP_016859185.1:p.Ala1882Thr | |
| XM_017003697.2:c.5644G>A | XP_016859186.1:p.Ala1882Thr | |
| XM_017003698.1:c.5368G>A | XP_016859187.1:p.Ala1790Thr | |
| XM_017003699.1:c.5368G>A | XP_016859188.1:p.Ala1790Thr | |
| XM_017003700.1:c.5092G>A | XP_016859189.1:p.Ala1698Thr | |
| NM_015311.3:c.5644G>A MANE Select | NP_056126.1:p.Ala1882Thr |