Linked Data
dbSNP Id:
rs967100570
gnomAD v2:
X-22111911-C-T
gnomAD v3:
X-22093793-C-T
gnomAD v4:
X-22093793-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22093793C>T , CM000685.2:g.22093793C>T | GRCh38 |
| NC_000023.10:g.22111911C>T , CM000685.1:g.22111911C>T | GRCh37 |
| NC_000023.9:g.22021832C>T | NCBI36 |
| NG_007563.2:g.65991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.1159-190C>T | ||
| ENST00000684143.1:c.730-190C>T | ENSP00000508264.1:n.730-190C>T | |
| ENST00000684745.1:n.407-190C>T | ||
| ENST00000379374.5:c.733-190C>T MANE Select | ENSP00000368682.4:n.733-190C>T | |
| ENST00000379374.4:c.733-190C>T | ENSP00000368682.4:n.733-190C>T | |
| ENST00000475778.1:n.6-190C>T | ||
| NM_000444.5:c.733-190C>T | NP_000435.3:n.733-190C>T | |
| NM_001282754.1:c.733-190C>T | NP_001269683.1:n.733-190C>T | |
| XM_011545533.1:c.-24-190C>T | XP_011543835.1:n.-24-190C>T | |
| XM_011545534.1:c.-24-190C>T | XP_011543836.1:n.-24-190C>T | |
| XM_011545535.1:c.733-190C>T | XP_011543837.1:n.733-190C>T | |
| XM_017029579.1:c.-24-190C>T | XP_016885068.1:n.-24-190C>T | |
| XM_024452390.1:c.442-190C>T | XP_024308158.1:n.442-190C>T | |
| XR_001755695.1:n.1412-190C>T | ||
| NM_000444.6:c.733-190C>T MANE Select | NP_000435.3:n.733-190C>T | |
| NM_001282754.2:c.733-190C>T | NP_001269683.1:n.733-190C>T |