Linked Data
ClinVar Variation Id:
729741
dbSNP Id:
rs140825693
ExAC:
2:220418334 C / A
gnomAD v2:
2-220418334-C-A
gnomAD v3:
2-219553612-C-A
gnomAD v4:
2-219553612-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219553612C>A , CM000664.2:g.219553612C>A | GRCh38 |
| NC_000002.11:g.220418334C>A , CM000664.1:g.220418334C>A | GRCh37 |
| NC_000002.10:g.220126578C>A | NCBI36 |
| NG_016977.1:g.22935G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404537.6:c.4951G>T MANE Select | ENSP00000385636.1:p.Glu1651Ter | |
| ENST00000373876.5:c.4675G>T | ENSP00000362983.1:p.Glu1559Ter | |
| ENST00000404537.5:c.4951G>T | ENSP00000385636.1:p.Glu1651Ter | |
| ENST00000465149.1:n.3717-588G>T | ||
| NM_015311.2:c.4951G>T | NP_056126.1:p.Glu1651Ter | |
| XM_005246424.3:c.4675G>T | XP_005246481.1:p.Glu1559Ter | |
| XM_011510854.1:c.5008G>T | XP_011509156.1:p.Glu1670Ter | |
| XM_011510855.1:c.5008G>T | XP_011509157.1:p.Glu1670Ter | |
| XM_011510856.1:c.5008G>T | XP_011509158.1:p.Glu1670Ter | |
| XM_011510857.1:c.4951G>T | XP_011509159.1:p.Glu1651Ter | |
| XM_011510858.1:c.5008G>T | XP_011509160.1:p.Glu1670Ter | |
| XM_011510859.1:c.4732G>T | XP_011509161.1:p.Glu1578Ter | |
| XM_011510860.1:c.4732G>T | XP_011509162.1:p.Glu1578Ter | |
| XM_011510861.1:c.4456G>T | XP_011509163.1:p.Glu1486Ter | |
| XM_011510862.1:c.4934-588G>T | XP_011509164.1:n.4934-588G>T | |
| XM_011510863.1:c.4610-588G>T | XP_011509165.1:n.4610-588G>T | |
| XM_011510857.2:c.4951G>T | XP_011509159.1:p.Glu1651Ter | |
| XM_011510863.3:c.4610-588G>T | XP_011509165.1:n.4610-588G>T | |
| XM_017003696.2:c.4951G>T | XP_016859185.1:p.Glu1651Ter | |
| XM_017003697.2:c.4951G>T | XP_016859186.1:p.Glu1651Ter | |
| XM_017003698.1:c.4675G>T | XP_016859187.1:p.Glu1559Ter | |
| XM_017003699.1:c.4675G>T | XP_016859188.1:p.Glu1559Ter | |
| XM_017003700.1:c.4399G>T | XP_016859189.1:p.Glu1467Ter | |
| NM_015311.3:c.4951G>T MANE Select | NP_056126.1:p.Glu1651Ter |