Linked Data
dbSNP Id:
rs6903896
gnomAD v2:
6-31168029-G-A
gnomAD v3:
6-31200252-G-A
gnomAD v4:
6-31200252-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31200252G>A , CM000668.2:g.31200252G>A | GRCh38 |
| NC_000006.11:g.31168029G>A , CM000668.1:g.31168029G>A | GRCh37 |
| NC_000006.10:g.31276008G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383331.4:c.124-2120G>A | ||
| ENST00000414008.2:n.359G>A | ||
| ENST00000424675.1:c.44+2071G>A | ||
| NR_026791.1:n.124-2120G>A |