Linked Data
ClinVar Variation Id:
1053
dbSNP Id:
rs267606879
gnomAD v3:
14-104703428-G-A
gnomAD v4:
14-104703428-G-A
PubMed:
PMID:20023659
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104703428G>A , CM000676.2:g.104703428G>A | GRCh38 |
| NC_000014.8:g.105169765G>A , CM000676.1:g.105169765G>A | GRCh37 |
| NC_000014.7:g.104240810G>A | NCBI36 |
| NG_027684.1:g.18823G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.641G>A MANE Select | ENSP00000376410.4:p.Arg214His | |
| ENST00000617571.5:c.641G>A | ENSP00000483829.2:p.Arg214His | |
| ENST00000674520.1:c.641G>A | ENSP00000502593.1:p.Arg214His | |
| ENST00000674662.1:c.641G>A | ENSP00000501895.1:p.Arg214His | |
| ENST00000674757.1:c.641G>A | ENSP00000502202.1:p.Arg214His | |
| ENST00000674822.1:c.525G>A | ENSP00000501552.1:n.525G>A | |
| ENST00000674846.1:c.641G>A | ENSP00000502431.1:p.Arg214His | |
| ENST00000674857.1:c.630G>A | ENSP00000501687.1:n.630G>A | |
| ENST00000674960.1:c.641G>A | ENSP00000501841.1:p.Arg214His | |
| ENST00000674991.1:c.641G>A | ENSP00000502004.1:p.Arg214His | |
| ENST00000674994.1:c.641G>A | ENSP00000502442.1:p.Arg214His | |
| ENST00000675029.1:n.843G>A | ||
| ENST00000675207.1:c.737G>A | ENSP00000502644.1:p.Arg246His | |
| ENST00000675329.1:c.641G>A | ENSP00000502287.1:p.Arg214His | |
| ENST00000675481.1:c.641G>A | ENSP00000502723.1:p.Arg214His | |
| ENST00000675583.1:c.641G>A | ENSP00000501740.1:p.Arg214His | |
| ENST00000675638.1:c.641G>A | ENSP00000501647.1:p.Arg214His | |
| ENST00000675724.1:c.641G>A | ENSP00000502576.1:p.Arg214His | |
| ENST00000675771.1:c.641G>A | ENSP00000502104.1:p.Arg214His | |
| ENST00000675797.1:c.641G>A | ENSP00000502023.1:p.Arg214His | |
| ENST00000675809.1:c.641G>A | ENSP00000502587.1:p.Arg214His | |
| ENST00000675930.1:c.641G>A | ENSP00000502456.1:p.Arg214His | |
| ENST00000675980.1:c.641G>A | ENSP00000502520.1:p.Arg214His | |
| ENST00000676016.1:c.641G>A | ENSP00000502412.1:p.Arg214His | |
| ENST00000676366.1:c.641G>A | ENSP00000501605.1:p.Arg214His | |
| ENST00000330634.11:c.641G>A | ENSP00000376406.3:p.Arg214His | |
| ENST00000392634.8:c.641G>A | ENSP00000376410.4:p.Arg214His | |
| ENST00000398337.8:c.641G>A | ENSP00000381380.4:p.Arg214His | |
| NM_001031714.3:c.641G>A | NP_001026884.3:p.Arg214His | |
| NM_022489.3:c.641G>A | NP_071934.3:p.Arg214His | |
| NM_032714.2:c.641G>A | NP_116103.1:p.Arg214His | |
| XM_005268004.3:c.737G>A | XP_005268061.1:p.Arg246His | |
| XM_005268005.3:c.737G>A | XP_005268062.1:p.Arg246His | |
| XR_943507.1:n.866G>A | ||
| XM_005268004.4:c.737G>A | XP_005268061.1:p.Arg246His | |
| XM_005268005.4:c.737G>A | XP_005268062.1:p.Arg246His | |
| XM_017021595.1:c.737G>A | XP_016877084.1:p.Arg246His | |
| XR_001750518.1:n.842G>A | ||
| NM_001031714.4:c.641G>A | NP_001026884.3:p.Arg214His | |
| NM_022489.4:c.641G>A MANE Select | NP_071934.3:p.Arg214His | |
| NM_032714.3:c.641G>A | NP_116103.1:p.Arg214His |