Linked Data
dbSNP Id:
rs1415248152
gnomAD v2:
6-31167845-A-C
gnomAD v3:
6-31200068-A-C
gnomAD v4:
6-31200068-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31200068A>C , CM000668.2:g.31200068A>C | GRCh38 |
| NC_000006.11:g.31167845A>C , CM000668.1:g.31167845A>C | GRCh37 |
| NC_000006.10:g.31275824A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383331.4:c.123+2186A>C | ||
| ENST00000414008.2:n.175A>C | ||
| ENST00000424675.1:c.44+1887A>C | ||
| NR_026791.1:n.123+2186A>C |