Linked Data
dbSNP Id:
rs4833103
gnomAD v2:
4-38815502-A-C
gnomAD v3:
4-38813881-A-C
gnomAD v4:
4-38813881-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38813881A>C , CM000666.2:g.38813881A>C | GRCh38 |
| NC_000004.11:g.38815502A>C , CM000666.1:g.38815502A>C | GRCh37 |
| NC_000004.10:g.38491897A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000506146.5:c.-352-8688T>G | ENSP00000423725.1:n.-352-8688T>G |