Linked Data
dbSNP Id:
rs544489683
gnomAD v2:
6-31326978-A-C
gnomAD v3:
6-31359201-A-C
gnomAD v4:
6-31359201-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31359201A>C , CM000668.2:g.31359201A>C | GRCh38 |
| NC_000006.11:g.31326978A>C , CM000668.1:g.31326978A>C | GRCh37 |
| NC_000006.10:g.31434957A>C | NCBI36 |
| NG_023187.1:g.3012T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1271-1520T>G | ||
| ENST00000481849.6:n.1271-1520T>G | ||
| ENST00000497377.6:n.1271-1520T>G | ||
| ENST00000696559.1:c.-203-1520T>G | ENSP00000512717.1:n.-203-1520T>G | |
| ENST00000696560.1:c.-203-1520T>G | ENSP00000512718.1:n.-203-1520T>G | |
| ENST00000696561.1:c.-203-1520T>G | ENSP00000512719.1:n.-203-1520T>G | |
| ENST00000696562.1:c.-135-1908T>G | ENSP00000512720.1:n.-135-1908T>G |