Linked Data
ClinVar Variation Id:
1429
dbSNP Id:
rs121918236
ExAC:
9:140128174 G / A
gnomAD v2:
9-140128174-G-A
gnomAD v3:
9-137233722-G-A
gnomAD v4:
9-137233722-G-A
PubMed:
PMID:16358215
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137233722G>A , CM000671.2:g.137233722G>A | GRCh38 |
| NC_000009.11:g.140128174G>A , CM000671.1:g.140128174G>A | GRCh37 |
| NC_000009.10:g.139247995G>A | NCBI36 |
| NG_017008.1:g.7966G>A | |
| NG_017008.2:g.7822G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673835.1:c.846G>A MANE Select | ENSP00000501114.1:p.Pro282= | |
| ENST00000673865.1:c.846G>A | ENSP00000501101.1:p.Pro282= | |
| ENST00000361134.2:c.846G>A | ENSP00000355353.2:p.Pro282= | |
| ENST00000538474.5:c.846G>A | ENSP00000442397.1:p.Pro282= | |
| NM_001177316.1:c.846G>A | NP_001170787.1:p.Pro282= | |
| NM_001177317.1:c.846G>A | NP_001170788.1:p.Pro282= | |
| NM_080877.2:c.846G>A | NP_543153.1:p.Pro282= | |
| XM_011518256.1:c.846G>A | XP_011516558.1:p.Pro282= | |
| XM_011518257.1:c.846G>A | XP_011516559.1:p.Pro282= | |
| XM_011518258.1:c.846G>A | XP_011516560.1:p.Pro282= | |
| XM_011518259.1:c.846G>A | XP_011516561.1:p.Pro282= | |
| XM_011518260.1:c.846G>A | XP_011516562.1:p.Pro282= | |
| XM_011518261.1:c.846G>A | XP_011516563.1:p.Pro282= | |
| XM_011518262.1:c.846G>A | XP_011516564.1:p.Pro282= | |
| XM_011518257.2:c.846G>A | XP_011516559.1:p.Pro282= | |
| XM_011518261.2:c.846G>A | XP_011516563.1:p.Pro282= | |
| XM_017014290.1:c.846G>A | XP_016869779.1:p.Pro282= | |
| XM_017014291.1:c.846G>A | XP_016869780.1:p.Pro282= | |
| XM_017014292.1:c.846G>A | XP_016869781.1:p.Pro282= | |
| NM_001177316.2:c.846G>A MANE Select | NP_001170787.2:p.Pro282= | |
| NM_001177317.2:c.846G>A | NP_001170788.2:p.Pro282= | |
| NM_080877.3:c.846G>A | NP_543153.2:p.Pro282= |