Linked Data
dbSNP Id:
rs564731129
gnomAD v2:
8-18067611-T-G
gnomAD v3:
8-18210102-T-G
gnomAD v4:
8-18210102-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18210102T>G , CM000670.2:g.18210102T>G | GRCh38 |
| NC_000008.10:g.18067611T>G , CM000670.1:g.18067611T>G | GRCh37 |
| NC_000008.9:g.18111891T>G | NCBI36 |
| NG_012245.2:g.44641T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307719.8:c.-164T>G | ENSP00000307218.4:n.-164T>G | |
| ENST00000517441.5:n.267+147T>G | ||
| NM_001160179.2:c.-86+147T>G | NP_001153651.1:n.-86+147T>G | |
| NM_001291962.1:c.-18+147T>G | NP_001278891.1:n.-18+147T>G | |
| XM_011544687.1:c.-630T>G | XP_011542989.1:n.-630T>G | |
| XM_011544688.1:c.-480T>G | XP_011542990.1:n.-480T>G | |
| XM_017013947.1:c.-552+147T>G | XP_016869436.1:n.-552+147T>G | |
| NM_001160179.3:c.-86+147T>G | NP_001153651.1:n.-86+147T>G | |
| NM_001291962.2:c.-18+147T>G | NP_001278891.1:n.-18+147T>G |