Linked Data
dbSNP Id:
rs2540917
gnomAD v2:
2-60608759-T-C
gnomAD v3:
2-60381624-T-C
gnomAD v4:
2-60381624-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60381624T>C , CM000664.2:g.60381624T>C | GRCh38 |
| NC_000002.11:g.60608759T>C , CM000664.1:g.60608759T>C | GRCh37 |
| NC_000002.10:g.60462263T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_132991.1:n.93+1320A>G | ||
| NR_132992.1:n.70+9682A>G |