Linked Data
ClinVar Variation Id:
1093632
ClinVar RCV Id:
RCV001413824
dbSNP Id:
rs2145655621
gnomAD v4:
21-32631172-G-A
MyVariant Identifiers:
chr21:g.34003482G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32631172G>A , CM000683.2:g.32631172G>A | GRCh38 |
| NC_000021.8:g.34003482G>A , CM000683.1:g.34003482G>A | GRCh37 |
| NC_000021.7:g.32925353G>A | NCBI36 |
| NG_030017.1:g.101870C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382499.7:c.4686C>T | ENSP00000371939.2:n.4686C>T | |
| ENST00000433931.7:c.4662C>T | ENSP00000409667.2:p.Asn1554= | |
| ENST00000630077.3:c.4404C>T | ENSP00000487560.1:p.Asn1468= | |
| ENST00000674204.1:c.*633C>T | ENSP00000501504.1:n.*633C>T | |
| ENST00000674308.1:c.4545C>T | ENSP00000501426.1:p.Asn1515= | |
| ENST00000674351.1:c.*633C>T MANE Select | ENSP00000501530.1:n.*633C>T | |
| ENST00000357345.7:c.*633C>T | ENSP00000349903.3:n.*633C>T | |
| ENST00000382491.7:c.*633C>T | ENSP00000371931.4:n.*633C>T | |
| ENST00000382499.6:c.4686C>T | ENSP00000371939.2:n.4686C>T | |
| ENST00000433931.6:c.4662C>T | ENSP00000409667.2:p.Asn1554= | |
| ENST00000438952.5:c.1195C>T | ||
| ENST00000630077.2:c.4404C>T | ENSP00000487560.1:p.Asn1468= | |
| NM_001160302.1:c.*633C>T | NP_001153774.1:n.*633C>T | |
| NM_001160306.1:c.4404C>T | NP_001153778.1:p.Asn1468= | |
| NM_003895.3:c.4662C>T | NP_003886.3:p.Asn1554= | |
| NM_203446.2:c.4686C>T | NP_982271.2:n.4686C>T | |
| XM_017028494.1:c.4497C>T | XP_016883983.1:p.Asn1499= | |
| XM_017028495.2:c.4647C>T | XP_016883984.1:p.Asn1549= | |
| XM_017028496.1:c.4458C>T | XP_016883985.1:p.Asn1486= | |
| XM_017028497.2:c.4614C>T | XP_016883986.1:p.Asn1538= | |
| XM_017028498.1:c.4419C>T | XP_016883987.1:p.Asn1473= | |
| XM_017028499.2:c.4521C>T | XP_016883988.1:p.Asn1507= | |
| XM_017028500.1:c.*633C>T | XP_016883989.1:n.*633C>T | |
| XM_017028501.1:c.*633C>T | XP_016883990.1:n.*633C>T | |
| XM_017028502.1:c.*633C>T | XP_016883991.1:n.*633C>T | |
| XM_017028503.1:c.*633C>T | XP_016883992.1:n.*633C>T | |
| XM_017028504.1:c.*633C>T | XP_016883993.1:n.*633C>T | |
| XM_017028505.2:c.*633C>T | XP_016883994.1:n.*633C>T | |
| NM_001160306.2:c.4404C>T | NP_001153778.1:p.Asn1468= | |
| NM_203446.3:c.*633C>T MANE Select | NP_982271.3:n.*633C>T |