Linked Data
dbSNP Id:
rs1413083186
gnomAD v2:
12-3218377-C-T
gnomAD v3:
12-3109211-C-T
gnomAD v4:
12-3109211-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.3109211C>T , CM000674.2:g.3109211C>T | GRCh38 |
| NC_000012.11:g.3218377C>T , CM000674.1:g.3218377C>T | GRCh37 |
| NC_000012.10:g.3088638C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000011898.10:c.-18+25492C>T MANE Select | ENSP00000011898.5:n.-18+25492C>T | |
| ENST00000649909.1:c.-130+25492C>T | ENSP00000497370.1:n.-130+25492C>T | |
| ENST00000011898.9:c.-18+25492C>T | ENSP00000011898.5:n.-18+25492C>T | |
| ENST00000444315.6:c.-18+25492C>T | ENSP00000412908.2:n.-18+25492C>T | |
| ENST00000537971.5:c.-18+31758C>T | ENSP00000444799.1:n.-18+31758C>T | |
| NM_001168320.1:c.-18+31758C>T | NP_001161792.1:n.-18+31758C>T | |
| NM_006675.4:c.-18+25492C>T | NP_006666.1:n.-18+25492C>T | |
| XM_011520912.1:c.-349+25492C>T | XP_011519214.1:n.-349+25492C>T | |
| XM_011520912.3:c.-349+25492C>T | XP_011519214.1:n.-349+25492C>T | |
| NM_006675.5:c.-18+25492C>T MANE Select | NP_006666.1:n.-18+25492C>T | |
| NM_001168320.2:c.-18+31758C>T | NP_001161792.1:n.-18+31758C>T |