Linked Data
ClinVar Variation Id:
2148894
ClinVar RCV Id:
RCV003081265
dbSNP Id:
rs1557182538
gnomAD v2:
X-153609100-C-T
gnomAD v4:
X-154380740-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380740C>T , CM000685.2:g.154380740C>T | GRCh38 |
| NC_000023.10:g.153609100C>T , CM000685.1:g.153609100C>T | GRCh37 |
| NC_000023.9:g.153262294C>T | NCBI36 |
| NG_008677.1:g.11305C>T , LRG_745:g.11305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.400-13C>T | ENSP00000507245.1:n.400-13C>T | |
| ENST00000682478.1:n.590-13C>T | ||
| ENST00000683576.1:n.590-13C>T | ||
| ENST00000683627.1:c.400-13C>T | ENSP00000507533.1:n.400-13C>T | |
| ENST00000684082.1:c.357-13C>T | ENSP00000508266.1:n.357-13C>T | |
| ENST00000684633.1:n.372-13C>T | ||
| ENST00000684678.1:c.396-13C>T | ENSP00000507059.1:n.396-13C>T | |
| ENST00000369842.9:c.400-13C>T MANE Select | ENSP00000358857.4:n.400-13C>T | |
| ENST00000369835.3:c.295-13C>T | ENSP00000358850.3:n.295-13C>T | |
| ENST00000369842.8:c.400-13C>T | ENSP00000358857.4:n.400-13C>T | |
| ENST00000428228.5:c.*305-13C>T | ENSP00000401081.1:n.*305-13C>T | |
| ENST00000468294.5:n.360-13C>T | ||
| ENST00000471965.1:n.176C>T | ||
| ENST00000485261.1:n.590-13C>T | ||
| ENST00000486738.5:n.758-13C>T | ||
| ENST00000492448.1:n.383-13C>T | ||
| NM_000117.2:c.400-13C>T , LRG_745t1:c.400-13C>T | NP_000108.1:n.400-13C>T | |
| XM_024452349.1:c.406-13C>T | XP_024308117.1:n.406-13C>T | |
| NM_000117.3:c.400-13C>T MANE Select | NP_000108.1:n.400-13C>T |