Linked Data
dbSNP Id:
rs11089788
gnomAD v2:
22-36751101-C-A
gnomAD v3:
22-36355056-C-A
gnomAD v4:
22-36355056-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36355056C>A , CM000684.2:g.36355056C>A | GRCh38 |
| NC_000022.10:g.36751101C>A , CM000684.1:g.36751101C>A | GRCh37 |
| NC_000022.9:g.35081047C>A | NCBI36 |
| NG_011884.2:g.37963G>T , LRG_567:g.37963G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685187.1:n.196-5801G>T | ||
| ENST00000685191.1:n.205-5801G>T | ||
| ENST00000685801.1:c.-19-5801G>T | ENSP00000510688.1:n.-19-5801G>T | |
| ENST00000688137.1:c.-19-5801G>T | ENSP00000510189.1:n.-19-5801G>T | |
| ENST00000691296.1:c.-19-5801G>T | ENSP00000509816.1:n.-19-5801G>T | |
| ENST00000691687.1:n.196-5801G>T | ||
| ENST00000692930.1:n.196-5801G>T | ||
| ENST00000216181.11:c.-19-5801G>T MANE Select | ENSP00000216181.6:n.-19-5801G>T | |
| ENST00000216181.9:c.-19-5801G>T | ENSP00000216181.5:n.-19-5801G>T | |
| ENST00000401701.1:c.-19-5801G>T | ENSP00000384631.1:n.-19-5801G>T | |
| ENST00000456729.1:c.-19-5801G>T | ENSP00000414852.1:n.-19-5801G>T | |
| NM_002473.5:c.-19-5801G>T , LRG_567t1:c.-19-5801G>T | NP_002464.1:n.-19-5801G>T | |
| XM_011530197.1:c.-19-5801G>T | XP_011528499.1:n.-19-5801G>T | |
| XM_011530197.2:c.-19-5801G>T | XP_011528499.1:n.-19-5801G>T | |
| XM_017028803.1:c.-19-5801G>T | XP_016884292.1:n.-19-5801G>T | |
| XM_017028804.1:c.-19-5801G>T | XP_016884293.1:n.-19-5801G>T | |
| XM_017028806.1:c.-19-5801G>T | XP_016884295.1:n.-19-5801G>T | |
| NM_002473.6:c.-19-5801G>T MANE Select | NP_002464.1:n.-19-5801G>T |