Linked Data
dbSNP Id:
rs11171846
gnomAD v2:
12-56828056-C-T
gnomAD v3:
12-56434272-C-T
gnomAD v4:
12-56434272-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56434272C>T , CM000674.2:g.56434272C>T | GRCh38 |
| NC_000012.11:g.56828056C>T , CM000674.1:g.56828056C>T | GRCh37 |
| NC_000012.10:g.55114323C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553532.6:c.-61-41G>A MANE Select | ENSP00000450607.1:n.-61-41G>A | |
| ENST00000229201.4:c.-61-41G>A | ENSP00000229201.4:n.-61-41G>A | |
| ENST00000553532.5:c.-61-41G>A | ENSP00000450607.1:n.-61-41G>A | |
| NM_003920.3:c.-61-41G>A | NP_003911.2:n.-61-41G>A | |
| XM_011538939.1:c.-61-41G>A | XP_011537241.1:n.-61-41G>A | |
| NM_001330295.1:c.-61-41G>A | NP_001317224.1:n.-61-41G>A | |
| NM_003920.4:c.-61-41G>A | NP_003911.2:n.-61-41G>A | |
| NR_138471.1:n.157-41G>A | ||
| NM_003920.5:c.-61-41G>A MANE Select | NP_003911.2:n.-61-41G>A | |
| NM_001330295.2:c.-61-41G>A | NP_001317224.1:n.-61-41G>A | |
| NR_138471.2:n.118-41G>A |