Linked Data
dbSNP Id:
rs775848911
ExAC:
1:237044169 G / A
gnomAD v2:
1-237044169-G-A
gnomAD v4:
1-236880869-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236880869G>A , CM000663.2:g.236880869G>A | GRCh38 |
| NC_000001.10:g.237044169G>A , CM000663.1:g.237044169G>A | GRCh37 |
| NC_000001.9:g.235110792G>A | NCBI36 |
| NG_008959.1:g.90589G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.2676+33G>A MANE Select | ENSP00000355536.5:n.2676+33G>A | |
| ENST00000535889.6:c.2523+33G>A | ENSP00000441845.1:n.2523+33G>A | |
| ENST00000650888.1:c.*1718+33G>A | ENSP00000498393.1:n.*1718+33G>A | |
| ENST00000651455.1:c.*1420+33G>A | ENSP00000498963.1:n.*1420+33G>A | |
| ENST00000674797.2:c.2328+33G>A | ENSP00000502299.2:n.2328+33G>A | |
| ENST00000679569.1:n.2990+33G>A | ||
| ENST00000679842.1:c.2487+33G>A | ENSP00000506109.1:n.2487+33G>A | |
| ENST00000680454.1:n.3120+33G>A | ||
| ENST00000681102.1:c.2496+33G>A | ENSP00000505600.1:n.2496+33G>A | |
| ENST00000681177.1:c.2238+33G>A | ENSP00000506327.1:n.2238+33G>A | |
| ENST00000681937.1:n.2870+33G>A | ||
| ENST00000366576.3:c.1338+33G>A | ENSP00000355535.3:n.1338+33G>A | |
| ENST00000366577.9:c.2676+33G>A | ENSP00000355536.5:n.2676+33G>A | |
| ENST00000535889.5:c.2523+33G>A | ENSP00000441845.1:n.2523+33G>A | |
| NM_000254.2:c.2676+33G>A | NP_000245.2:n.2676+33G>A | |
| NM_001291939.1:c.2523+33G>A | NP_001278868.1:n.2523+33G>A | |
| NM_001291940.1:c.1455+33G>A | NP_001278869.1:n.1455+33G>A | |
| XM_005273141.3:c.2673+33G>A | XP_005273198.1:n.2673+33G>A | |
| XM_006711769.2:c.2676+33G>A | XP_006711832.1:n.2676+33G>A | |
| XM_006711770.1:c.1740+33G>A | XP_006711833.1:n.1740+33G>A | |
| XM_011544193.1:c.2487+33G>A | XP_011542495.1:n.2487+33G>A | |
| XM_011544194.1:c.2844+33G>A | XP_011542496.1:n.2844+33G>A | |
| XM_005273141.5:c.2673+33G>A | XP_005273198.1:n.2673+33G>A | |
| XM_006711770.3:c.1740+33G>A | XP_006711833.1:n.1740+33G>A | |
| XM_011544194.3:c.2844+33G>A | XP_011542496.1:n.2844+33G>A | |
| XM_017001329.2:c.2691+33G>A | XP_016856818.1:n.2691+33G>A | |
| XM_017001330.2:c.2655+33G>A | XP_016856819.1:n.2655+33G>A | |
| NM_001291940.2:c.1455+33G>A | NP_001278869.1:n.1455+33G>A | |
| NM_000254.3:c.2676+33G>A MANE Select | NP_000245.2:n.2676+33G>A |