Linked Data
dbSNP Id:
rs1433143817
gnomAD v2:
6-1610327-A-C
gnomAD v3:
6-1610092-A-C
gnomAD v4:
6-1610092-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610092A>C , CM000668.2:g.1610092A>C | GRCh38 |
| NC_000006.11:g.1610327A>C , CM000668.1:g.1610327A>C | GRCh37 |
| NC_000006.10:g.1555326A>C | NCBI36 |
| NG_009368.1:g.4647A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.-354A>C MANE Select | ENSP00000493906.1:n.-354A>C | |
| ENST00000380874.3:c.-354A>C | ENSP00000370256.2:n.-354A>C | |
| NM_001453.3:c.-354A>C MANE Select | NP_001444.2:n.-354A>C |