Linked Data
dbSNP Id:
rs2716734
gnomAD v2:
2-39947721-C-T
gnomAD v3:
2-39720581-C-T
gnomAD v4:
2-39720581-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39720581C>T , CM000664.2:g.39720581C>T | GRCh38 |
| NC_000002.11:g.39947721C>T , CM000664.1:g.39947721C>T | GRCh37 |
| NC_000002.10:g.39801225C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_024452702.1:c.401-14648C>T | XP_024308470.1:n.401-14648C>T |