Linked Data
ClinVar Variation Id:
221271
dbSNP Id:
rs201419367
ExAC:
6:84563879 A / T
gnomAD v2:
6-84563879-A-T
gnomAD v3:
6-83854160-A-T
gnomAD v4:
6-83854160-A-T
PubMed:
PMID:25343988
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.83854160A>T , CM000668.2:g.83854160A>T | GRCh38 |
| NC_000006.11:g.84563879A>T , CM000668.1:g.84563879A>T | GRCh37 |
| NC_000006.10:g.84620598A>T | NCBI36 |
| NG_046722.1:g.5895A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369689.6:c.238A>T MANE Select | ENSP00000358703.1:p.Arg80Ter | |
| ENST00000369687.2:c.64A>T | ENSP00000358701.1:p.Arg22Ter | |
| ENST00000369689.5:c.238A>T | ENSP00000358703.1:p.Arg80Ter | |
| ENST00000635617.1:n.571A>T | ||
| NM_001009994.2:c.238A>T | NP_001009994.1:p.Arg80Ter | |
| NR_103525.1:n.295A>T | ||
| NR_103525.2:n.233A>T | ||
| NM_001009994.3:c.238A>T MANE Select | NP_001009994.1:p.Arg80Ter | |
| NM_001400774.1:c.-29A>T | NP_001387703.1:n.-29A>T | |
| NM_001400899.1:c.301A>T | NP_001387828.1:p.Arg101Ter | |
| NM_001400900.1:c.238A>T | NP_001387829.1:p.Arg80Trp | |
| NR_174603.1:n.233A>T | ||
| NR_174604.1:n.295A>T | ||
| NR_174605.1:n.455+101A>T | ||
| NR_174622.1:n.233A>T |