Linked Data
dbSNP Id:
rs1008459
gnomAD v2:
1-175151183-T-C
gnomAD v3:
1-175182047-T-C
gnomAD v4:
1-175182047-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.175182047T>C , CM000663.2:g.175182047T>C | GRCh38 |
| NC_000001.10:g.175151183T>C , CM000663.1:g.175151183T>C | GRCh37 |
| NC_000001.9:g.173417806T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423313.6:c.-383-4363A>G MANE Select | ENSP00000462172.1:n.-383-4363A>G | |
| ENST00000423313.5:c.-383-4363A>G | ENSP00000462172.1:n.-383-4363A>G | |
| ENST00000444639.5:c.-383-4363A>G | ENSP00000463734.1:n.-383-4363A>G | |
| ENST00000545251.6:c.-310+10593A>G | ENSP00000464040.1:n.-310+10593A>G | |
| ENST00000563563.2:n.218-4363A>G | ||
| ENST00000567124.5:n.137-4363A>G | ||
| NM_001162893.1:c.-383-4363A>G | NP_001156365.1:n.-383-4363A>G | |
| NM_001162894.1:c.-383-4363A>G | NP_001156366.1:n.-383-4363A>G | |
| NM_001162895.1:c.-310+10593A>G | NP_001156367.1:n.-310+10593A>G | |
| NM_014656.2:c.-383-4363A>G | NP_055471.2:n.-383-4363A>G | |
| XM_005245628.3:c.-310+10813A>G | XP_005245685.1:n.-310+10813A>G | |
| XM_011510182.1:c.-766-4363A>G | XP_011508484.1:n.-766-4363A>G | |
| XM_011510183.1:c.-841-4363A>G | XP_011508485.1:n.-841-4363A>G | |
| XM_011510184.1:c.-458-4363A>G | XP_011508486.1:n.-458-4363A>G | |
| NM_001319230.1:c.-310+10813A>G | NP_001306159.1:n.-310+10813A>G | |
| NM_001319231.1:c.-458-4363A>G | NP_001306160.1:n.-458-4363A>G | |
| XM_017002911.2:c.-310+10593A>G | XP_016858400.1:n.-310+10593A>G | |
| NM_014656.3:c.-383-4363A>G MANE Select | NP_055471.2:n.-383-4363A>G | |
| NM_001162893.2:c.-383-4363A>G | NP_001156365.1:n.-383-4363A>G | |
| NM_001162894.2:c.-383-4363A>G | NP_001156366.1:n.-383-4363A>G | |
| NM_001162895.2:c.-310+10593A>G | NP_001156367.1:n.-310+10593A>G | |
| NM_001319230.2:c.-310+10813A>G | NP_001306159.1:n.-310+10813A>G | |
| NM_001319231.2:c.-458-4363A>G | NP_001306160.1:n.-458-4363A>G |