Linked Data
dbSNP Id:
rs1211375
gnomAD v2:
16-240280-A-T
gnomAD v3:
16-190281-A-T
gnomAD v4:
16-190281-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.190281A>T , CM000678.2:g.190281A>T | GRCh38 |
| NC_000016.9:g.240280A>T , CM000678.1:g.240280A>T | GRCh37 |
| NC_000016.8:g.180281A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000293872.13:c.807-146T>A MANE Select | ENSP00000293872.8:n.807-146T>A | |
| ENST00000293872.12:c.807-146T>A | ENSP00000293872.8:n.807-146T>A | |
| ENST00000337351.8:c.807-146T>A | ENSP00000337507.4:n.807-146T>A | |
| ENST00000397780.5:c.648-146T>A | ENSP00000380882.1:n.648-146T>A | |
| ENST00000397783.5:c.807-146T>A | ENSP00000380885.1:n.807-146T>A | |
| ENST00000418978.5:c.*773-146T>A | ENSP00000393551.1:n.*773-146T>A | |
| ENST00000419516.5:c.*709-146T>A | ENSP00000414860.1:n.*709-146T>A | |
| ENST00000426094.5:c.*1970-146T>A | ENSP00000390953.1:n.*1970-146T>A | |
| ENST00000429378.5:c.204-146T>A | ENSP00000413033.1:n.204-146T>A | |
| ENST00000442701.1:c.10-146T>A | ||
| ENST00000464711.5:n.1725-146T>A | ||
| ENST00000468732.5:n.56-146T>A | ||
| ENST00000490762.5:n.2126-146T>A | ||
| ENST00000495349.5:n.872-146T>A | ||
| ENST00000629543.2:c.*709-146T>A | ENSP00000485761.1:n.*709-146T>A | |
| NM_018032.3:c.807-146T>A | NP_060502.1:n.807-146T>A | |
| NM_201412.1:c.807-146T>A | NP_958815.1:n.807-146T>A | |
| XM_005255426.1:c.807-146T>A | XP_005255483.1:n.807-146T>A | |
| XM_005255427.2:c.648-146T>A | XP_005255484.1:n.648-146T>A | |
| XM_005255428.2:c.549-146T>A | XP_005255485.1:n.549-146T>A | |
| XM_005255429.2:c.549-146T>A | XP_005255486.1:n.549-146T>A | |
| XM_006720903.2:c.648-146T>A | XP_006720966.1:n.648-146T>A | |
| XM_011522561.1:c.708-146T>A | XP_011520863.1:n.708-146T>A | |
| XM_011522562.1:c.648-146T>A | XP_011520864.1:n.648-146T>A | |
| XM_011522563.1:c.648-146T>A | XP_011520865.1:n.648-146T>A | |
| NM_001320226.1:c.807-146T>A | NP_001307155.1:n.807-146T>A | |
| NM_001330420.1:c.648-146T>A | NP_001317349.1:n.648-146T>A | |
| NM_018032.4:c.807-146T>A | NP_060502.1:n.807-146T>A | |
| NM_201412.2:c.807-146T>A | NP_958815.1:n.807-146T>A | |
| XM_005255427.3:c.648-146T>A | XP_005255484.1:n.648-146T>A | |
| XM_005255429.3:c.549-146T>A | XP_005255486.1:n.549-146T>A | |
| XM_011522561.2:c.708-146T>A | XP_011520863.1:n.708-146T>A | |
| XM_017023437.2:c.648-146T>A | XP_016878926.1:n.648-146T>A | |
| XM_017023438.2:c.549-146T>A | XP_016878927.1:n.549-146T>A | |
| XM_017023440.2:c.549-146T>A | XP_016878929.1:n.549-146T>A | |
| XM_024450344.1:c.708-146T>A | XP_024306112.1:n.708-146T>A | |
| NM_018032.5:c.807-146T>A | NP_060502.1:n.807-146T>A | |
| NM_001320226.2:c.807-146T>A | NP_001307155.1:n.807-146T>A | |
| NM_001330420.2:c.648-146T>A | NP_001317349.1:n.648-146T>A | |
| NM_201412.3:c.807-146T>A MANE Select | NP_958815.1:n.807-146T>A |