Linked Data
dbSNP Id:
rs13048019
gnomAD v2:
21-32918294-C-T
gnomAD v3:
21-31545981-C-T
gnomAD v4:
21-31545981-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31545981C>T , CM000683.2:g.31545981C>T | GRCh38 |
| NC_000021.8:g.32918294C>T , CM000683.1:g.32918294C>T | GRCh37 |
| NC_000021.7:g.31840165C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286827.7:c.-422+12946G>A | ENSP00000286827.3:n.-422+12946G>A | |
| ENST00000469412.5:n.59+13938G>A | ||
| ENST00000541036.5:c.-422+12946G>A | ENSP00000441570.1:n.-422+12946G>A | |
| NM_003253.2:c.-422+12946G>A | NP_003244.2:n.-422+12946G>A | |
| XM_011529711.1:c.-422+12607G>A | XP_011528013.1:n.-422+12607G>A | |
| XM_011529712.1:c.-422+13938G>A | XP_011528014.1:n.-422+13938G>A | |
| NM_001353688.1:c.-707+12946G>A | NP_001340617.1:n.-707+12946G>A | |
| NM_001353689.1:c.-489+12946G>A | NP_001340618.1:n.-489+12946G>A | |
| NM_001353690.1:c.-369+12946G>A | NP_001340619.1:n.-369+12946G>A | |
| NM_001353691.1:c.-518+12946G>A | NP_001340620.1:n.-518+12946G>A | |
| NM_001353692.1:c.-312+12946G>A | NP_001340621.1:n.-312+12946G>A | |
| NM_001353693.1:c.-422+12607G>A | NP_001340622.1:n.-422+12607G>A | |
| NM_003253.3:c.-422+12946G>A | NP_003244.2:n.-422+12946G>A | |
| XM_017028448.1:c.-489+12607G>A | XP_016883937.1:n.-489+12607G>A | |
| XM_024452127.1:c.-707+12607G>A | XP_024307895.1:n.-707+12607G>A |