Linked Data
ClinVar Variation Id:
1597731
ClinVar RCV Id:
RCV002105873
dbSNP Id:
rs190913381
ExAC:
X:53458927 C / T
gnomAD v2:
X-53458927-C-T
gnomAD v3:
X-53431979-C-T
gnomAD v4:
X-53431979-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53431979C>T , CM000685.2:g.53431979C>T | GRCh38 |
| NC_000023.10:g.53458927C>T , CM000685.1:g.53458927C>T | GRCh37 |
| NC_000023.9:g.53475652C>T | NCBI36 |
| NG_008153.1:g.7397G>A , LRG_450:g.7397G>A | |
| NG_033076.2:g.14125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495986.2:n.630+9G>A | ||
| ENST00000682365.1:n.1960G>A | ||
| ENST00000684251.1:n.339G>A | ||
| ENST00000684503.1:n.651+9G>A | ||
| ENST00000684692.1:c.486+9G>A | ENSP00000506792.1:n.486+9G>A | |
| ENST00000168216.11:c.486+9G>A MANE Select | ENSP00000168216.6:n.486+9G>A | |
| ENST00000168216.10:c.486+9G>A | ENSP00000168216.6:n.486+9G>A | |
| ENST00000375298.4:c.486+9G>A | ENSP00000364447.4:n.486+9G>A | |
| ENST00000375304.9:c.486+9G>A | ENSP00000364453.5:n.486+9G>A | |
| ENST00000477706.1:n.214G>A | ||
| ENST00000495986.1:n.618+9G>A | ||
| NM_001037811.2:c.486+9G>A , LRG_450t2:c.486+9G>A | NP_001032900.1:n.486+9G>A | |
| NM_004493.2:c.486+9G>A , LRG_450t1:c.486+9G>A | NP_004484.1:n.486+9G>A | |
| NM_004493.3:c.486+9G>A MANE Select | NP_004484.1:n.486+9G>A |