Linked Data
dbSNP Id:
rs541638756
gnomAD v2:
16-8891613-G-C
gnomAD v3:
16-8797756-G-C
gnomAD v4:
16-8797756-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797756G>C , CM000678.2:g.8797756G>C | GRCh38 |
| NC_000016.9:g.8891613G>C , CM000678.1:g.8891613G>C | GRCh37 |
| NC_000016.8:g.8799114G>C | NCBI36 |
| NG_009209.1:g.4944G>C | |
| NG_033146.1:g.4893C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682008.1:c.-127G>C | ENSP00000507849.1:n.-127G>C | |
| ENST00000566983.5:c.-15-4043G>C | ENSP00000457956.1:n.-15-4043G>C |