Linked Data
dbSNP Id:
rs1211311610
gnomAD v2:
6-31167844-G-C
gnomAD v3:
6-31200067-G-C
gnomAD v4:
6-31200067-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31200067G>C , CM000668.2:g.31200067G>C | GRCh38 |
| NC_000006.11:g.31167844G>C , CM000668.1:g.31167844G>C | GRCh37 |
| NC_000006.10:g.31275823G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383331.4:c.123+2185G>C | ||
| ENST00000414008.2:n.174G>C | ||
| ENST00000424675.1:c.44+1886G>C | ||
| NR_026791.1:n.123+2185G>C |