Linked Data
dbSNP Id:
rs1159327
gnomAD v2:
6-152048022-C-T
gnomAD v3:
6-151726887-C-T
gnomAD v4:
6-151726887-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151726887C>T , CM000668.2:g.151726887C>T | GRCh38 |
| NC_000006.11:g.152048022C>T , CM000668.1:g.152048022C>T | GRCh37 |
| NC_000006.10:g.152089715C>T | NCBI36 |
| NG_008493.1:g.41392C>T | |
| NG_008493.2:g.75197C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404742.5:c.-71+24882C>T | ENSP00000385373.1:n.-71+24882C>T | |
| ENST00000440973.5:c.-71+24882C>T | ENSP00000405330.1:n.-71+24882C>T | |
| ENST00000473497.5:n.204+24882C>T | ||
| NM_001122742.1:c.-71+24882C>T | NP_001116214.1:n.-71+24882C>T | |
| XM_006715374.2:c.-71+24882C>T | XP_006715437.1:n.-71+24882C>T | |
| XM_011535543.1:c.-185+24882C>T | XP_011533845.1:n.-185+24882C>T | |
| XM_011535547.1:c.-71+24882C>T | XP_011533849.1:n.-71+24882C>T | |
| XM_006715374.3:c.-71+24882C>T | XP_006715437.1:n.-71+24882C>T | |
| XM_011535543.2:c.-185+24882C>T | XP_011533845.1:n.-185+24882C>T | |
| XM_011535547.2:c.-71+24882C>T | XP_011533849.1:n.-71+24882C>T | |
| XM_017010376.1:c.-71+24882C>T | XP_016865865.1:n.-71+24882C>T | |
| XM_017010377.1:c.-71+24882C>T | XP_016865866.1:n.-71+24882C>T | |
| XM_017010378.1:c.-71+24882C>T | XP_016865867.1:n.-71+24882C>T | |
| XM_017010379.1:c.-71+24882C>T | XP_016865868.1:n.-71+24882C>T | |
| XM_017010380.1:c.-71+70124C>T | XP_016865869.1:n.-71+70124C>T | |
| XR_001743223.2:n.300+24882C>T | ||
| XR_002956266.1:n.300+24882C>T | ||
| NM_001122742.2:c.-71+24882C>T | NP_001116214.1:n.-71+24882C>T | |
| NM_001385568.1:c.-71+24882C>T | NP_001372497.1:n.-71+24882C>T | |
| NM_001385570.1:c.-71+24882C>T | NP_001372499.1:n.-71+24882C>T |