Linked Data
dbSNP Id:
rs7006821
gnomAD v2:
8-72270082-T-C
gnomAD v3:
8-71357847-T-C
gnomAD v4:
8-71357847-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.71357847T>C , CM000670.2:g.71357847T>C | GRCh38 |
| NC_000008.10:g.72270082T>C , CM000670.1:g.72270082T>C | GRCh37 |
| NC_000008.9:g.72432636T>C | NCBI36 |
| NG_011735.2:g.9386A>G | |
| NG_011735.3:g.195284A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340726.8:c.-54-1336A>G MANE Select | ENSP00000342626.3:n.-54-1336A>G | |
| ENST00000388741.7:c.-25-1336A>G | ENSP00000373393.2:n.-25-1336A>G | |
| ENST00000465115.6:c.-54-1336A>G | ENSP00000428391.1:n.-54-1336A>G | |
| ENST00000643681.1:c.34-1336A>G | ENSP00000495390.1:n.34-1336A>G | |
| ENST00000644229.1:c.34-1336A>G | ENSP00000494568.1:n.34-1336A>G | |
| ENST00000644712.1:c.34-1336A>G | ENSP00000496188.1:n.34-1336A>G | |
| ENST00000645451.1:c.-25-1336A>G | ENSP00000494888.1:n.-25-1336A>G | |
| ENST00000645793.1:c.-54-1336A>G | ENSP00000496255.1:n.-54-1336A>G | |
| ENST00000647540.1:c.-54-1336A>G | ENSP00000494438.1:n.-54-1336A>G | |
| ENST00000303824.11:c.-54-1336A>G | ENSP00000303221.7:n.-54-1336A>G | |
| ENST00000340726.7:c.-54-1336A>G | ENSP00000342626.3:n.-54-1336A>G | |
| ENST00000388741.6:c.-25-1336A>G | ENSP00000373393.2:n.-25-1336A>G | |
| ENST00000465115.5:c.-54-1336A>G | ENSP00000428391.1:n.-54-1336A>G | |
| NM_000503.5:c.-54-1336A>G | NP_000494.2:n.-54-1336A>G | |
| NM_001288574.1:c.-54-1336A>G | NP_001275503.1:n.-54-1336A>G | |
| NM_001288575.1:c.-338-1336A>G | NP_001275504.1:n.-338-1336A>G | |
| XM_011517481.1:c.22-1336A>G | XP_011515783.1:n.22-1336A>G | |
| XM_011517482.1:c.34-1336A>G | XP_011515784.1:n.34-1336A>G | |
| XM_011517485.1:c.-54-1336A>G | XP_011515787.1:n.-54-1336A>G | |
| XM_011517486.1:c.-54-1336A>G | XP_011515788.1:n.-54-1336A>G | |
| XM_011517487.1:c.-54-1336A>G | XP_011515789.1:n.-54-1336A>G | |
| XM_011517488.1:c.-54-1336A>G | XP_011515790.1:n.-54-1336A>G | |
| XM_011517489.1:c.12-1336A>G | XP_011515791.1:n.12-1336A>G | |
| XM_011517490.1:c.-25-1336A>G | XP_011515792.1:n.-25-1336A>G | |
| XM_011517491.1:c.-25-1336A>G | XP_011515793.1:n.-25-1336A>G | |
| NM_172059.4:c.34-1336A>G | NP_742056.2:n.34-1336A>G | |
| XM_011517483.2:c.-1390A>G | XP_011515785.1:n.-1390A>G | |
| XM_011517484.3:c.34-1336A>G | XP_011515786.2:n.34-1336A>G | |
| XM_017013201.1:c.34-1336A>G | XP_016868690.1:n.34-1336A>G | |
| XM_017013202.1:c.34-1336A>G | XP_016868691.1:n.34-1336A>G | |
| XM_017013203.2:c.34-1336A>G | XP_016868692.1:n.34-1336A>G | |
| XM_017013204.2:c.34-1336A>G | XP_016868693.1:n.34-1336A>G | |
| XM_017013205.2:c.34-1336A>G | XP_016868694.1:n.34-1336A>G | |
| XM_017013206.1:c.-54-1336A>G | XP_016868695.1:n.-54-1336A>G | |
| XM_017013207.2:c.34-1336A>G | XP_016868696.1:n.34-1336A>G | |
| XM_017013208.2:c.-54-1336A>G | XP_016868697.1:n.-54-1336A>G | |
| XM_017013210.2:c.34-1336A>G | XP_016868699.1:n.34-1336A>G | |
| XM_017013211.2:c.12-1336A>G | XP_016868700.1:n.12-1336A>G | |
| XM_017013212.2:c.-25-1336A>G | XP_016868701.1:n.-25-1336A>G | |
| XM_017013213.1:c.-1674A>G | XP_016868702.1:n.-1674A>G | |
| NM_000503.6:c.-54-1336A>G MANE Select | NP_000494.2:n.-54-1336A>G | |
| NM_001288574.2:c.-54-1336A>G | NP_001275503.1:n.-54-1336A>G | |
| NM_001288575.2:c.-338-1336A>G | NP_001275504.1:n.-338-1336A>G | |
| NM_001370333.1:c.34-1336A>G | NP_001357262.1:n.34-1336A>G | |
| NM_001370334.1:c.-54-1336A>G | NP_001357263.1:n.-54-1336A>G | |
| NM_001370335.1:c.-54-1336A>G | NP_001357264.1:n.-54-1336A>G | |
| NM_001370336.1:c.34-1336A>G | NP_001357265.1:n.34-1336A>G | |
| NM_172059.5:c.34-1336A>G | NP_742056.2:n.34-1336A>G |