Linked Data
ClinVar Variation Id:
374401
ClinVar RCV Id:
RCV000415452
dbSNP Id:
rs1057518721
gnomAD v4:
X-153723558-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153723558G>T , CM000685.2:g.153723558G>T | GRCh38 |
| NC_000023.10:g.152989013G>T , CM000685.1:g.152989013G>T | GRCh37 |
| NC_000023.9:g.152642207G>T | NCBI36 |
| NG_009022.2:g.3691G>T | |
| NG_023231.1:g.6189C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345046.12:c.-44-270C>A MANE Select | ENSP00000343458.6:n.-44-270C>A | |
| ENST00000458587.8:c.107C>A | ENSP00000392330.2:p.Ser36Ter | |
| ENST00000645377.1:c.-44-270C>A | ENSP00000494936.1:n.-44-270C>A | |
| ENST00000645802.1:n.64-270C>A | ||
| ENST00000647529.1:c.-95C>A | ENSP00000494052.1:n.-95C>A | |
| ENST00000672675.1:c.-44-270C>A | ENSP00000499882.1:n.-44-270C>A | |
| ENST00000345046.10:c.-44-270C>A | ENSP00000343458.6:n.-44-270C>A | |
| ENST00000416815.5:c.-44-270C>A | ENSP00000394270.1:n.-44-270C>A | |
| ENST00000423827.5:c.-44-270C>A | ENSP00000389740.1:n.-44-270C>A | |
| ENST00000429550.5:c.-44-270C>A | ENSP00000409888.1:n.-44-270C>A | |
| ENST00000442093.5:c.-44-270C>A | ENSP00000400345.1:n.-44-270C>A | |
| ENST00000458587.6:c.107C>A | ENSP00000392330.2:p.Ser36Ter | |
| NM_001139441.1:c.-44-270C>A | NP_001132913.1:n.-44-270C>A | |
| NM_001139457.2:c.107C>A | NP_001132929.1:p.Ser36Ter | |
| NM_001256447.1:c.-44-270C>A | NP_001243376.1:n.-44-270C>A | |
| NM_005745.7:c.-44-270C>A | NP_005736.3:n.-44-270C>A | |
| XR_002958758.1:n.537C>A | ||
| XR_002958759.1:n.414-270C>A | ||
| XR_002958760.1:n.179-270C>A | ||
| XR_002958761.1:n.113-270C>A | ||
| NM_001256447.2:c.-44-270C>A MANE Select | NP_001243376.1:n.-44-270C>A | |
| NM_005745.8:c.-44-270C>A | NP_005736.3:n.-44-270C>A |