Linked Data
ClinVar Variation Id:
478355
ClinVar RCV Id:
RCV000538312
dbSNP Id:
rs777299829
ExAC:
21:34003881 C / A
gnomAD v2:
21-34003881-C-A
gnomAD v4:
21-32631571-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32631571C>A , CM000683.2:g.32631571C>A | GRCh38 |
| NC_000021.8:g.34003881C>A , CM000683.1:g.34003881C>A | GRCh37 |
| NC_000021.7:g.32925752C>A | NCBI36 |
| NG_030017.1:g.101471G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382499.7:c.4287G>T | ENSP00000371939.2:n.4287G>T | |
| ENST00000433931.7:c.4263G>T | ENSP00000409667.2:p.Arg1421= | |
| ENST00000630077.3:c.4005G>T | ENSP00000487560.1:p.Arg1335= | |
| ENST00000674204.1:c.*234G>T | ENSP00000501504.1:n.*234G>T | |
| ENST00000674308.1:c.4146G>T | ENSP00000501426.1:p.Arg1382= | |
| ENST00000674351.1:c.*234G>T MANE Select | ENSP00000501530.1:n.*234G>T | |
| ENST00000357345.7:c.*234G>T | ENSP00000349903.3:n.*234G>T | |
| ENST00000382491.7:c.*234G>T | ENSP00000371931.4:n.*234G>T | |
| ENST00000382499.6:c.4287G>T | ENSP00000371939.2:n.4287G>T | |
| ENST00000433931.6:c.4263G>T | ENSP00000409667.2:p.Arg1421= | |
| ENST00000438952.5:c.796G>T | ||
| ENST00000630077.2:c.4005G>T | ENSP00000487560.1:p.Arg1335= | |
| NM_001160302.1:c.*234G>T | NP_001153774.1:n.*234G>T | |
| NM_001160306.1:c.4005G>T | NP_001153778.1:p.Arg1335= | |
| NM_003895.3:c.4263G>T | NP_003886.3:p.Arg1421= | |
| NM_203446.2:c.4287G>T | NP_982271.2:n.4287G>T | |
| XM_017028494.1:c.4098G>T | XP_016883983.1:p.Arg1366= | |
| XM_017028495.2:c.4248G>T | XP_016883984.1:p.Arg1416= | |
| XM_017028496.1:c.4059G>T | XP_016883985.1:p.Arg1353= | |
| XM_017028497.2:c.4215G>T | XP_016883986.1:p.Arg1405= | |
| XM_017028498.1:c.4020G>T | XP_016883987.1:p.Arg1340= | |
| XM_017028499.2:c.4122G>T | XP_016883988.1:p.Arg1374= | |
| XM_017028500.1:c.*234G>T | XP_016883989.1:n.*234G>T | |
| XM_017028501.1:c.*234G>T | XP_016883990.1:n.*234G>T | |
| XM_017028502.1:c.*234G>T | XP_016883991.1:n.*234G>T | |
| XM_017028503.1:c.*234G>T | XP_016883992.1:n.*234G>T | |
| XM_017028504.1:c.*234G>T | XP_016883993.1:n.*234G>T | |
| XM_017028505.2:c.*234G>T | XP_016883994.1:n.*234G>T | |
| NM_001160306.2:c.4005G>T | NP_001153778.1:p.Arg1335= | |
| NM_203446.3:c.*234G>T MANE Select | NP_982271.3:n.*234G>T |