Linked Data
ClinVar Variation Id:
1905078
dbSNP Id:
rs139035034
ExAC:
11:8111203 C / T
gnomAD v2:
11-8111203-C-T
gnomAD v3:
11-8089656-C-T
gnomAD v4:
11-8089656-C-T
COSMIC:
COSM3453866
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8089656C>T , CM000673.2:g.8089656C>T | GRCh38 |
| NC_000011.9:g.8111203C>T , CM000673.1:g.8111203C>T | GRCh37 |
| NC_000011.8:g.8067779C>T | NCBI36 |
| NG_029912.1:g.56024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.85C>T MANE Select | ENSP00000299506.3:p.Arg29Trp | |
| ENST00000299506.2:c.85C>T | ENSP00000299506.2:p.Arg29Trp | |
| ENST00000305253.8:c.250C>T | ENSP00000305426.4:p.Arg84Trp | |
| ENST00000534099.5:c.103C>T | ENSP00000434400.1:p.Arg35Trp | |
| NM_003320.4:c.250C>T | NP_003311.2:p.Arg84Trp | |
| NM_177972.2:c.85C>T | NP_813977.1:p.Arg29Trp | |
| XM_005253109.2:c.211C>T | XP_005253166.1:p.Arg71Trp | |
| XM_011520344.1:c.121C>T | XP_011518646.1:p.Arg41Trp | |
| XM_005253109.3:c.211C>T | XP_005253166.1:p.Arg71Trp | |
| XM_011520344.2:c.121C>T | XP_011518646.1:p.Arg41Trp | |
| NM_177972.3:c.85C>T MANE Select | NP_813977.1:p.Arg29Trp | |
| NM_003320.5:c.250C>T | NP_003311.2:p.Arg84Trp |