Linked Data
dbSNP Id:
rs133945
gnomAD v2:
22-33402843-C-T
gnomAD v3:
22-33006858-C-T
gnomAD v4:
22-33006858-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.33006858C>T , CM000684.2:g.33006858C>T | GRCh38 |
| NC_000022.10:g.33402843C>T , CM000684.1:g.33402843C>T | GRCh37 |
| NC_000022.9:g.31732843C>T | NCBI36 |
| NG_029545.1:g.56535G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358763.7:c.-162-34G>A MANE Select | ENSP00000351614.2:n.-162-34G>A | |
| ENST00000358763.6:c.-162-34G>A | ENSP00000351614.2:n.-162-34G>A | |
| ENST00000412575.1:c.-162-34G>A | ENSP00000388582.1:n.-162-34G>A | |
| ENST00000441821.5:c.-162-34G>A | ENSP00000395794.1:n.-162-34G>A | |
| NM_001135774.1:c.-162-34G>A | NP_001129246.1:n.-162-34G>A | |
| XM_011530405.1:c.-162-34G>A | XP_011528707.1:n.-162-34G>A | |
| XM_011530406.1:c.-162-34G>A | XP_011528708.1:n.-162-34G>A | |
| XM_011530407.1:c.-162-34G>A | XP_011528709.1:n.-162-34G>A | |
| XM_011530408.1:c.-159-37G>A | XP_011528710.1:n.-159-37G>A | |
| XM_011530409.1:c.-162-34G>A | XP_011528711.1:n.-162-34G>A | |
| XM_011530411.1:c.-162-34G>A | XP_011528713.1:n.-162-34G>A | |
| XM_011530413.1:c.-162-34G>A | XP_011528715.1:n.-162-34G>A | |
| XM_011530414.1:c.-162-34G>A | XP_011528716.1:n.-162-34G>A | |
| XR_937927.1:n.323-34G>A | ||
| XM_011530405.3:c.-162-34G>A | XP_011528707.1:n.-162-34G>A | |
| XM_011530406.3:c.-162-34G>A | XP_011528708.1:n.-162-34G>A | |
| XM_011530407.3:c.-162-34G>A | XP_011528709.1:n.-162-34G>A | |
| XM_011530408.2:c.-159-37G>A | XP_011528710.1:n.-159-37G>A | |
| XM_017028961.2:c.-162-34G>A | XP_016884450.1:n.-162-34G>A | |
| XM_017028962.2:c.-162-34G>A | XP_016884451.1:n.-162-34G>A | |
| XM_017028963.2:c.-159-37G>A | XP_016884452.1:n.-159-37G>A | |
| XM_017028964.2:c.-159-37G>A | XP_016884453.1:n.-159-37G>A | |
| XR_001755317.2:n.76-34G>A | ||
| NM_001135774.2:c.-162-34G>A | NP_001129246.1:n.-162-34G>A | |
| NM_001369907.1:c.-159-37G>A | NP_001356836.1:n.-159-37G>A | |
| NM_001369908.1:c.-162-34G>A | NP_001356837.1:n.-162-34G>A | |
| NM_001369909.1:c.-159-37G>A | NP_001356838.1:n.-159-37G>A | |
| NM_001369910.1:c.-159-37G>A | NP_001356839.1:n.-159-37G>A | |
| NM_003490.4:c.-162-34G>A MANE Select | NP_003481.3:n.-162-34G>A |