Linked Data
dbSNP Id:
rs927442014
gnomAD v2:
9-125133270-A-G
gnomAD v3:
9-122370991-A-G
gnomAD v4:
9-122370991-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.122370991A>G , CM000671.2:g.122370991A>G | GRCh38 |
| NC_000009.11:g.125133270A>G , CM000671.1:g.125133270A>G | GRCh37 |
| NC_000009.10:g.124173091A>G | NCBI36 |
| NG_032900.1:g.5042A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000540753.6:c.-291+149A>G | ENSP00000437709.1:n.-291+149A>G | |
| ENST00000643810.1:c.-321+149A>G | ENSP00000494717.1:n.-321+149A>G | |
| ENST00000540753.5:c.-291+149A>G | ENSP00000437709.1:n.-291+149A>G | |
| NM_001271166.1:c.-321+149A>G | NP_001258095.1:n.-321+149A>G | |
| NM_001271368.1:c.-291+149A>G | NP_001258297.1:n.-291+149A>G | |
| XM_011518875.1:c.-291+149A>G | XP_011517177.1:n.-291+149A>G | |
| XM_011518876.1:c.-4153+149A>G | XP_011517178.1:n.-4153+149A>G | |
| XM_011518875.2:c.-291+149A>G | XP_011517177.1:n.-291+149A>G | |
| XM_011518876.2:c.-4153+149A>G | XP_011517178.1:n.-4153+149A>G | |
| XM_024447614.1:c.-321+149A>G | XP_024303382.1:n.-321+149A>G | |
| XM_024447615.1:c.-321+149A>G | XP_024303383.1:n.-321+149A>G | |
| NM_001271166.2:c.-321+149A>G | NP_001258095.1:n.-321+149A>G | |
| NM_001271368.2:c.-291+149A>G | NP_001258297.1:n.-291+149A>G |