Linked Data
dbSNP Id:
rs575333751
gnomAD v2:
6-32787021-G-A
gnomAD v3:
6-32819244-G-A
gnomAD v4:
6-32819244-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32819244G>A , CM000668.2:g.32819244G>A | GRCh38 |
| NC_000006.11:g.32787021G>A , CM000668.1:g.32787021G>A | GRCh37 |
| NC_000006.10:g.32894999G>A | NCBI36 |
| NG_009793.3:g.24527C>T | |
| NG_012008.1:g.2805C>T | |
| NG_009793.4:g.24527C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648009.1:c.-2+1067C>T | ENSP00000496848.1:n.-2+1067C>T | |
| ENST00000452392.2:c.1933-2292C>T | ENSP00000391806.2:n.1933-2292C>T |