Linked Data
ClinVar Variation Id:
356227
ClinVar RCV Id:
RCV000282660
dbSNP Id:
rs113824527
gnomAD v2:
6-31827051-A-C
gnomAD v3:
6-31859274-A-C
gnomAD v4:
6-31859274-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859274A>C , CM000668.2:g.31859274A>C | GRCh38 |
| NC_000006.11:g.31827051A>C , CM000668.1:g.31827051A>C | GRCh37 |
| NC_000006.10:g.31935030A>C | NCBI36 |
| NG_008201.1:g.8659T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.*445T>G MANE Select | ENSP00000364782.4:n.*445T>G | |
| ENST00000677054.1:n.3032T>G | ||
| ENST00000677512.1:n.1970T>G | ||
| ENST00000678869.1:n.2281T>G | ||
| ENST00000375631.4:c.*445T>G | ENSP00000364782.4:n.*445T>G | |
| ENST00000480384.1:n.1992T>G | ||
| ENST00000491768.5:c.*803T>G | ENSP00000433127.1:n.*803T>G | |
| ENST00000495807.1:n.3001T>G | ||
| NM_000434.3:c.*445T>G | NP_000425.1:n.*445T>G | |
| NM_000434.4:c.*445T>G MANE Select | NP_000425.1:n.*445T>G |