Linked Data
dbSNP Id:
rs360071
gnomAD v2:
1-226091735-T-C
gnomAD v3:
1-225904035-T-C
gnomAD v4:
1-225904035-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225904035T>C , CM000663.2:g.225904035T>C | GRCh38 |
| NC_000001.10:g.226091735T>C , CM000663.1:g.226091735T>C | GRCh37 |
| NC_000001.9:g.224158358T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432920.2:c.576-16003A>G | ENSP00000414068.2:n.576-16003A>G | |
| ENST00000492457.1:c.-57+7084A>G | ENSP00000479837.1:n.-57+7084A>G |