Linked Data
dbSNP Id:
rs2292016
gnomAD v2:
5-38845860-G-T
gnomAD v3:
5-38845758-G-T
gnomAD v4:
5-38845758-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.38845758G>T , CM000667.2:g.38845758G>T | GRCh38 |
| NC_000005.9:g.38845860G>T , CM000667.1:g.38845860G>T | GRCh37 |
| NC_000005.8:g.38881617G>T | NCBI36 |
| NG_016236.1:g.4901G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_109951.1:n.72C>A | ||
| NR_171676.1:n.12C>A | ||
| NR_171677.1:n.12C>A |