Linked Data
dbSNP Id:
rs1800541
gnomAD v2:
6-12289219-T-G
gnomAD v3:
6-12288986-T-G
gnomAD v4:
6-12288986-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12288986T>G , CM000668.2:g.12288986T>G | GRCh38 |
| NC_000006.11:g.12289219T>G , CM000668.1:g.12289219T>G | GRCh37 |
| NC_000006.10:g.12397205T>G | NCBI36 |
| NG_016196.1:g.3691T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011514330.1:c.-2+491T>G | XP_011512632.1:n.-2+491T>G | |
| XM_011514331.1:c.-1-1643T>G | XP_011512633.1:n.-1-1643T>G | |
| XM_011514332.1:c.-2+491T>G | XP_011512634.1:n.-2+491T>G | |
| XM_011514330.2:c.-2+491T>G | XP_011512632.1:n.-2+491T>G | |
| XM_011514331.3:c.-1-1643T>G | XP_011512633.1:n.-1-1643T>G | |
| XM_011514332.2:c.-2+491T>G | XP_011512634.1:n.-2+491T>G |