Linked Data
dbSNP Id:
rs16939046
gnomAD v2:
8-76147954-T-C
gnomAD v3:
8-75235719-T-C
gnomAD v4:
8-75235719-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.75235719T>C , CM000670.2:g.75235719T>C | GRCh38 |
| NC_000008.10:g.76147954T>C , CM000670.1:g.76147954T>C | GRCh37 |
| NC_000008.9:g.76310509T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_103848.1:n.230-11361A>G | ||
| NR_103849.2:n.178-11361A>G | ||
| NR_103850.2:n.126-11361A>G |