Linked Data
ClinVar Variation Id:
2701086
ClinVar RCV Id:
RCV003549531
MyVariant Identifiers:
chr21:g.47746398T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46326484T>C , CM000683.2:g.46326484T>C | GRCh38 |
| NC_000021.8:g.47746398T>C , CM000683.1:g.47746398T>C | GRCh37 |
| NC_000021.7:g.46570826T>C | NCBI36 |
| NG_008961.1:g.7363T>C | |
| NG_008961.2:g.7363T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466474.6:c.162T>C | ENSP00000511987.1:p.Ser54= | |
| ENST00000695525.1:n.248T>C | ||
| ENST00000695526.1:c.162T>C | ENSP00000511988.1:p.Ser54= | |
| ENST00000695558.1:c.162T>C | ENSP00000512015.1:p.Ser54= | |
| ENST00000703224.1:c.162T>C | ENSP00000515242.1:p.Ser54= | |
| ENST00000703225.1:n.1597T>C | ||
| ENST00000359568.10:c.162T>C MANE Select | ENSP00000352572.5:p.Ser54= | |
| ENST00000652508.1:c.197T>C | ENSP00000498568.1:p.Val66Ala | |
| ENST00000359568.9:c.162T>C | ENSP00000352572.5:p.Ser54= | |
| ENST00000480896.5:n.431T>C | ||
| ENST00000490468.5:n.250T>C | ||
| NM_001315529.1:c.-193T>C | NP_001302458.1:n.-193T>C | |
| NM_006031.5:c.162T>C | NP_006022.3:p.Ser54= | |
| XM_005261124.3:c.162T>C | XP_005261181.1:p.Ser54= | |
| XM_011529593.1:c.162T>C | XP_011527895.1:p.Ser54= | |
| XM_011529594.1:c.162T>C | XP_011527896.1:p.Ser54= | |
| XM_005261124.5:c.162T>C | XP_005261181.1:p.Ser54= | |
| XM_011529594.3:c.162T>C | XP_011527896.1:p.Ser54= | |
| XM_017028362.2:c.162T>C | XP_016883851.1:p.Ser54= | |
| XM_017028363.1:c.-193T>C | XP_016883852.1:n.-193T>C | |
| XM_024452083.1:c.-1947T>C | XP_024307851.1:n.-1947T>C | |
| NM_006031.6:c.162T>C MANE Select | NP_006022.3:p.Ser54= | |
| NM_001315529.2:c.-193T>C | NP_001302458.1:n.-193T>C |