Linked Data
ClinVar Variation Id:
2388
ClinVar RCV Id:
RCV000002489
dbSNP Id:
rs104893940
ExAC:
6:131904950 C / T
gnomAD v2:
6-131904950-C-T
gnomAD v3:
6-131583810-C-T
gnomAD v4:
6-131583810-C-T
PubMed:
PMID:1598908
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131583810C>T , CM000668.2:g.131583810C>T | GRCh38 |
| NC_000006.11:g.131904950C>T , CM000668.1:g.131904950C>T | GRCh37 |
| NC_000006.10:g.131946643C>T | NCBI36 |
| NG_007086.2:g.15586C>T | |
| NG_031860.1:g.49414G>A | |
| NG_031860.2:g.49414G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368087.8:c.871C>T (ARG1) MANE Select | ENSP00000357066.3:p.Arg291Ter | |
| ENST00000640973.1:c.613C>T (ARG1) | ENSP00000492623.1:p.Arg205Ter | |
| ENST00000672233.1:c.817C>T (ARG1) | ENSP00000499826.1:p.Arg273Ter | |
| ENST00000673234.1:c.*758C>T (ARG1) | ENSP00000499885.1:n.*758C>T | |
| ENST00000673427.1:c.616C>T (ARG1) | ENSP00000500160.1:p.Arg206Ter | |
| ENST00000354577.8:c.4095+3899G>A (MED23) | ENSP00000346588.4:n.4095+3899G>A | |
| ENST00000356962.2:c.895C>T (ARG1) | ENSP00000349446.2:p.Arg299Ter | |
| ENST00000368087.7:c.871C>T (ARG1) | ENSP00000357066.3:p.Arg291Ter | |
| NM_000045.3:c.871C>T (ARG1) | NP_000036.2:p.Arg291Ter | |
| NM_001244438.1:c.895C>T (ARG1) | NP_001231367.1:p.Arg299Ter | |
| NM_001270521.1:c.4077+3899G>A (MED23) | NP_001257450.1:n.4077+3899G>A | |
| NM_015979.3:c.4095+3899G>A (MED23) | NP_057063.2:n.4095+3899G>A | |
| XM_011535801.1:c.616C>T (ARG1) | XP_011534103.1:p.Arg206Ter | |
| XM_011535801.2:c.616C>T (ARG1) | XP_011534103.1:p.Arg206Ter | |
| NM_000045.4:c.871C>T (ARG1) MANE Select | NP_000036.2:p.Arg291Ter | |
| NM_001244438.2:c.895C>T (ARG1) | NP_001231367.1:p.Arg299Ter | |
| NM_001270521.2:c.4077+3899G>A (MED23) | NP_001257450.1:n.4077+3899G>A | |
| NM_001369020.1:c.616C>T (ARG1) | NP_001355949.1:p.Arg206Ter | |
| NM_015979.4:c.4095+3899G>A (MED23) | NP_057063.2:n.4095+3899G>A | |
| NR_160934.1:n.855C>T (ARG1) |