Linked Data
ClinVar Variation Id:
338831
ClinVar RCV Id:
RCV001516827
dbSNP Id:
rs2296241
ExAC:
20:52786219 G / A
gnomAD v2:
20-52786219-G-A
gnomAD v3:
20-54169680-G-A
gnomAD v4:
20-54169680-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54169680G>A , CM000682.2:g.54169680G>A | GRCh38 |
| NC_000020.10:g.52786219G>A , CM000682.1:g.52786219G>A | GRCh37 |
| NC_000020.9:g.52219626G>A | NCBI36 |
| NG_008334.1:g.9298C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216862.8:c.552C>T MANE Select | ENSP00000216862.3:p.Ala184= | |
| ENST00000216862.7:c.552C>T | ENSP00000216862.3:p.Ala184= | |
| ENST00000395954.3:c.126C>T | ENSP00000379284.3:p.Ala42= | |
| ENST00000395955.7:c.552C>T | ENSP00000379285.3:p.Ala184= | |
| NM_000782.4:c.552C>T | NP_000773.2:p.Ala184= | |
| NM_001128915.1:c.552C>T | NP_001122387.1:p.Ala184= | |
| XM_005260304.3:c.552C>T | XP_005260361.1:p.Ala184= | |
| XM_005260304.5:c.552C>T | XP_005260361.1:p.Ala184= | |
| XM_017027691.2:c.552C>T | XP_016883180.1:p.Ala184= | |
| XM_017027692.2:c.552C>T | XP_016883181.1:p.Ala184= | |
| XM_017027693.2:c.552C>T | XP_016883182.1:p.Ala184= | |
| NM_000782.5:c.552C>T MANE Select | NP_000773.2:p.Ala184= | |
| NM_001128915.2:c.552C>T | NP_001122387.1:p.Ala184= |