Linked Data
dbSNP Id:
rs3791878
gnomAD v2:
2-171672191-G-T
gnomAD v3:
2-170815681-G-T
gnomAD v4:
2-170815681-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.170815681G>T , CM000664.2:g.170815681G>T | GRCh38 |
| NC_000002.11:g.171672191G>T , CM000664.1:g.171672191G>T | GRCh37 |
| NC_000002.10:g.171380437G>T | NCBI36 |
| NG_021477.1:g.3992G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000454603.5:c.-64+2259G>T | ENSP00000402366.1:n.-64+2259G>T | |
| XM_011510922.1:c.-64+2259G>T | XP_011509224.1:n.-64+2259G>T |