Linked Data
dbSNP Id:
rs2328686
gnomAD v2:
6-145764286-T-C
gnomAD v3:
6-145443150-T-C
gnomAD v4:
6-145443150-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.145443150T>C , CM000668.2:g.145443150T>C | GRCh38 |
| NC_000006.11:g.145764286T>C , CM000668.1:g.145764286T>C | GRCh37 |
| NC_000006.10:g.145805979T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000638717.1:c.556-59053A>G | ||
| XM_024446550.1:c.773-59053A>G | XP_024302318.1:n.773-59053A>G |