Linked Data
dbSNP Id:
rs1907637
gnomAD v2:
3-151104838-A-G
gnomAD v3:
3-151387050-A-G
gnomAD v4:
3-151387050-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.151387050A>G , CM000665.2:g.151387050A>G | GRCh38 |
| NC_000003.11:g.151104838A>G , CM000665.1:g.151104838A>G | GRCh37 |
| NC_000003.10:g.152587528A>G | NCBI36 |
| NG_016019.1:g.2707T>C , LRG_569:g.2707T>C | |
| NG_021244.1:g.305163A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687756.1:c.5089-760A>G MANE Select | ENSP00000508695.1:n.5089-760A>G | |
| ENST00000273432.8:c.4564-760A>G | ENSP00000273432.4:n.4564-760A>G | |
| ENST00000474524.5:c.4984-760A>G | ENSP00000417235.1:n.4984-760A>G | |
| NM_053002.5:c.4984-760A>G | NP_443728.3:n.4984-760A>G | |
| XM_006713487.2:c.5089-760A>G | XP_006713550.1:n.5089-760A>G | |
| XM_011512386.1:c.5089-760A>G | XP_011510688.1:n.5089-760A>G | |
| XM_011512387.1:c.5086-760A>G | XP_011510689.1:n.5086-760A>G | |
| XM_011512388.1:c.5089-760A>G | XP_011510690.1:n.5089-760A>G | |
| XM_011512389.1:c.4984-760A>G | XP_011510691.1:n.4984-760A>G | |
| XM_011512390.1:c.4984-760A>G | XP_011510692.1:n.4984-760A>G | |
| XM_011512391.1:c.4819-760A>G | XP_011510693.1:n.4819-760A>G | |
| XM_011512392.1:c.4633-760A>G | XP_011510694.1:n.4633-760A>G | |
| XM_011512393.1:c.5089-760A>G | XP_011510695.1:n.5089-760A>G | |
| XM_011512394.1:c.5089-760A>G | XP_011510696.1:n.5089-760A>G | |
| XM_011512395.1:c.5089-760A>G | XP_011510697.1:n.5089-760A>G | |
| XM_011512396.1:c.3514-760A>G | XP_011510698.1:n.3514-760A>G | |
| XM_011512397.1:c.2956-760A>G | XP_011510699.1:n.2956-760A>G | |
| XM_011512398.1:c.2884-760A>G | XP_011510700.1:n.2884-760A>G | |
| XM_011512400.1:c.1906-760A>G | XP_011510702.1:n.1906-760A>G | |
| XM_006713487.3:c.5089-760A>G | XP_006713550.1:n.5089-760A>G | |
| XM_011512390.2:c.4984-760A>G | XP_011510692.1:n.4984-760A>G | |
| XM_011512394.2:c.5089-760A>G | XP_011510696.1:n.5089-760A>G | |
| XM_017005676.1:c.5089-760A>G | XP_016861165.1:n.5089-760A>G | |
| XM_017005677.1:c.5086-760A>G | XP_016861166.1:n.5086-760A>G | |
| XM_017005678.1:c.5089-760A>G | XP_016861167.1:n.5089-760A>G | |
| XM_017005679.1:c.4819-760A>G | XP_016861168.1:n.4819-760A>G | |
| XM_017005680.1:c.4807-760A>G | XP_016861169.1:n.4807-760A>G | |
| XM_017005681.1:c.2476-760A>G | XP_016861170.1:n.2476-760A>G | |
| XR_001740000.1:n.5486-760A>G | ||
| NM_001393769.1:c.5089-760A>G MANE Select | NP_001380698.1:n.5089-760A>G | |
| NM_053002.6:c.4984-760A>G | NP_443728.3:n.4984-760A>G |