Linked Data
ClinVar Variation Id:
1974917
ClinVar RCV Id:
RCV002765855
dbSNP Id:
rs762767858
ExAC:
6:157510813 G / A
gnomAD v2:
6-157510813-G-A
gnomAD v4:
6-157189679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157189679G>A , CM000668.2:g.157189679G>A | GRCh38 |
| NC_000006.11:g.157510813G>A , CM000668.1:g.157510813G>A | GRCh37 |
| NC_000006.10:g.157552505G>A | NCBI36 |
| NG_032093.1:g.416750G>A | |
| NG_032093.2:g.416750G>A | |
| NG_066624.1:g.418654G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3798G>A | ENSP00000055163.8:p.Gln1266= | |
| ENST00000414678.8:c.3867G>A | ENSP00000412835.3:p.Gln1289= | |
| ENST00000637015.2:c.4086G>A | ENSP00000489729.2:p.Gln1362= | |
| ENST00000346085.10:c.3837G>A | ENSP00000344546.5:p.Gln1279= | |
| ENST00000350026.10:c.3549G>A | ENSP00000055163.7:p.Gln1183= | |
| ENST00000414678.7:c.2115G>A | ENSP00000412835.2:p.Gln705= | |
| ENST00000635849.1:c.1278G>A | ENSP00000490948.1:p.Gln426= | |
| ENST00000635957.1:c.912G>A | ENSP00000490385.1:p.Gln304= | |
| ENST00000636930.2:c.3957G>A MANE Select | ENSP00000490491.2:p.Gln1319= | |
| ENST00000636940.1:n.1954G>A | ||
| ENST00000637015.1:c.1325G>A | ||
| ENST00000637568.1:c.1239G>A | ||
| ENST00000637741.1:n.623G>A | ||
| ENST00000637810.1:c.1299G>A | ENSP00000489636.1:p.Gln433= | |
| ENST00000637904.1:c.1458G>A | ENSP00000490550.1:p.Gln486= | |
| ENST00000647938.1:c.3588G>A | ENSP00000498155.1:p.Gln1196= | |
| ENST00000346085.9:c.3588G>A | ENSP00000344546.4:p.Gln1196= | |
| ENST00000350026.9:c.3549G>A | ENSP00000055163.7:p.Gln1183= | |
| ENST00000414678.6:c.2115G>A | ENSP00000412835.2:p.Gln705= | |
| NM_017519.2:c.3549G>A | NP_059989.2:p.Gln1183= | |
| NM_020732.3:c.3588G>A | NP_065783.3:p.Gln1196= | |
| XM_005267069.3:c.3708G>A | XP_005267126.2:p.Gln1236= | |
| XM_011535984.1:c.2787G>A | XP_011534286.1:p.Gln929= | |
| XM_011535985.1:c.2607G>A | XP_011534287.1:p.Gln869= | |
| XM_011535986.1:c.2367G>A | XP_011534288.1:p.Gln789= | |
| XM_011535987.1:c.1986G>A | XP_011534289.1:p.Gln662= | |
| XM_011535988.1:c.849G>A | XP_011534290.1:p.Gln283= | |
| NM_001346813.1:c.3708G>A | NP_001333742.1:p.Gln1236= | |
| NM_001363725.1:c.1458G>A | NP_001350654.1:p.Gln486= | |
| XM_011535984.2:c.3918G>A | XP_011534286.2:p.Gln1306= | |
| XM_011535988.3:c.849G>A | XP_011534290.1:p.Gln283= | |
| XM_017011103.2:c.3819G>A | XP_016866592.1:p.Gln1273= | |
| XM_017011104.1:c.3789G>A | XP_016866593.1:p.Gln1263= | |
| XM_017011105.2:c.3759G>A | XP_016866594.1:p.Gln1253= | |
| XM_017011106.2:c.3630G>A | XP_016866595.1:p.Gln1210= | |
| XM_017011107.2:c.3609G>A | XP_016866596.1:p.Gln1203= | |
| XR_002956289.1:n.4001G>A | ||
| NM_001363725.2:c.1458G>A | NP_001350654.1:p.Gln486= | |
| NM_001371656.1:c.3837G>A | NP_001358585.1:p.Gln1279= | |
| NM_001374820.1:c.3837G>A | NP_001361749.1:p.Gln1279= | |
| NM_001374828.1:c.3957G>A MANE Select | NP_001361757.1:p.Gln1319= | |
| NM_017519.3:c.3798G>A | NP_059989.3:p.Gln1266= |