Linked Data
dbSNP Id:
rs747644844
ExAC:
8:100831644 G / A
gnomAD v2:
8-100831644-G-A
gnomAD v3:
8-99819416-G-A
gnomAD v4:
8-99819416-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99819416G>A , CM000670.2:g.99819416G>A | GRCh38 |
| NC_000008.10:g.100831644G>A , CM000670.1:g.100831644G>A | GRCh37 |
| NC_000008.9:g.100900820G>A | NCBI36 |
| NG_007098.2:g.811151G>A , LRG_351:g.811151G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.8701G>A | ENSP00000507923.1:p.Glu2901Lys | |
| ENST00000682358.1:n.8771G>A | ||
| ENST00000683334.1:c.*4383G>A | ENSP00000507369.1:n.*4383G>A | |
| ENST00000357162.7:c.8626G>A MANE Select | ENSP00000349685.2:p.Glu2876Lys | |
| ENST00000358544.7:c.8701G>A MANE Plus Clinical | ENSP00000351346.2:p.Glu2901Lys | |
| ENST00000357162.6:c.8626G>A | ENSP00000349685.2:p.Glu2876Lys | |
| ENST00000358544.6:c.8701G>A | ENSP00000351346.2:p.Glu2901Lys | |
| NM_017890.4:c.8701G>A , LRG_351t1:c.8701G>A | NP_060360.3:p.Glu2901Lys | |
| NM_152564.4:c.8626G>A , LRG_351t2:c.8626G>A | NP_689777.3:p.Glu2876Lys | |
| XM_005250800.2:c.8701G>A | XP_005250857.1:p.Glu2901Lys | |
| XM_005250801.3:c.8701G>A | XP_005250858.1:p.Glu2901Lys | |
| XM_011516848.1:c.8698G>A | XP_011515150.1:p.Glu2900Lys | |
| XM_011516849.1:c.8623G>A | XP_011515151.1:p.Glu2875Lys | |
| XM_011516850.1:c.8323G>A | XP_011515152.1:p.Glu2775Lys | |
| XM_011516851.1:c.5587G>A | XP_011515153.1:p.Glu1863Lys | |
| XM_011516852.1:c.5587G>A | XP_011515154.1:p.Glu1863Lys | |
| XM_011516854.1:c.4480G>A | XP_011515156.1:p.Glu1494Lys | |
| XM_005250800.3:c.8701G>A | XP_005250857.1:p.Glu2901Lys | |
| XM_005250801.5:c.8701G>A | XP_005250858.1:p.Glu2901Lys | |
| XM_011516848.2:c.8698G>A | XP_011515150.1:p.Glu2900Lys | |
| XM_011516849.2:c.8623G>A | XP_011515151.1:p.Glu2875Lys | |
| XM_011516850.2:c.8323G>A | XP_011515152.1:p.Glu2775Lys | |
| XM_011516851.2:c.5587G>A | XP_011515153.1:p.Glu1863Lys | |
| XM_011516852.2:c.5587G>A | XP_011515154.1:p.Glu1863Lys | |
| XM_011516854.2:c.4480G>A | XP_011515156.1:p.Glu1494Lys | |
| XM_017013109.1:c.8506G>A | XP_016868598.1:p.Glu2836Lys | |
| XM_017013111.1:c.5587G>A | XP_016868600.1:p.Glu1863Lys | |
| XM_017013112.1:c.4258G>A | XP_016868601.1:p.Glu1420Lys | |
| XM_024447074.1:c.7486G>A | XP_024302842.1:p.Glu2496Lys | |
| NM_017890.5:c.8701G>A MANE Plus Clinical | NP_060360.3:p.Glu2901Lys | |
| NM_152564.5:c.8626G>A MANE Select | NP_689777.3:p.Glu2876Lys |