Linked Data
ClinVar Variation Id:
4706
dbSNP Id:
rs119479062
ExAC:
21:47831754 C / T
gnomAD v2:
21-47831754-C-T
gnomAD v3:
21-46411840-C-T
gnomAD v4:
21-46411840-C-T
COSMIC:
COSM1219825
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46411840C>T , CM000683.2:g.46411840C>T | GRCh38 |
| NC_000021.8:g.47831754C>T , CM000683.1:g.47831754C>T | GRCh37 |
| NC_000021.7:g.46656182C>T | NCBI36 |
| NG_008961.1:g.92719C>T | |
| NG_008961.2:g.92719C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695527.1:n.112C>T | ||
| ENST00000695558.1:c.5800C>T | ENSP00000512015.1:p.Arg1934Ter | |
| ENST00000703224.1:c.*5010C>T | ENSP00000515242.1:n.*5010C>T | |
| ENST00000359568.10:c.5767C>T MANE Select | ENSP00000352572.5:p.Arg1923Ter | |
| ENST00000359568.9:c.5767C>T | ENSP00000352572.5:p.Arg1923Ter | |
| ENST00000480896.5:n.6036C>T | ||
| NM_001315529.1:c.5413C>T | NP_001302458.1:p.Arg1805Ter | |
| NM_006031.5:c.5767C>T | NP_006022.3:p.Arg1923Ter | |
| XM_005261124.3:c.5800C>T | XP_005261181.1:p.Arg1934Ter | |
| XM_011529593.1:c.5878C>T | XP_011527895.1:p.Arg1960Ter | |
| XM_011529594.1:c.5848C>T | XP_011527896.1:p.Arg1950Ter | |
| XM_005261124.5:c.5800C>T | XP_005261181.1:p.Arg1934Ter | |
| XM_011529594.3:c.5848C>T | XP_011527896.1:p.Arg1950Ter | |
| XM_017028362.2:c.5767C>T | XP_016883851.1:p.Arg1923Ter | |
| XM_017028363.1:c.5446C>T | XP_016883852.1:p.Arg1816Ter | |
| XM_024452082.1:c.4684C>T | XP_024307850.1:p.Arg1562Ter | |
| XM_024452083.1:c.3580C>T | XP_024307851.1:p.Arg1194Ter | |
| NM_006031.6:c.5767C>T MANE Select | NP_006022.3:p.Arg1923Ter | |
| NM_001315529.2:c.5413C>T | NP_001302458.1:p.Arg1805Ter |