Linked Data
ClinVar Variation Id:
2730534
ClinVar RCV Id:
RCV003579756
dbSNP Id:
rs782609456
gnomAD v2:
X-53458867-T-G
gnomAD v3:
X-53431919-T-G
gnomAD v4:
X-53431919-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53431919T>G , CM000685.2:g.53431919T>G | GRCh38 |
| NC_000023.10:g.53458867T>G , CM000685.1:g.53458867T>G | GRCh37 |
| NC_000023.9:g.53475592T>G | NCBI36 |
| NG_008153.1:g.7457A>C , LRG_450:g.7457A>C | |
| NG_033076.2:g.14065T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495986.2:n.631-13A>C | ||
| ENST00000682365.1:n.2020A>C | ||
| ENST00000684251.1:n.399A>C | ||
| ENST00000684503.1:n.652-13A>C | ||
| ENST00000684692.1:c.487-13A>C | ENSP00000506792.1:n.487-13A>C | |
| ENST00000168216.11:c.487-13A>C MANE Select | ENSP00000168216.6:n.487-13A>C | |
| ENST00000168216.10:c.487-13A>C | ENSP00000168216.6:n.487-13A>C | |
| ENST00000375298.4:c.486+69A>C | ENSP00000364447.4:n.486+69A>C | |
| ENST00000375304.9:c.487-13A>C | ENSP00000364453.5:n.487-13A>C | |
| ENST00000477706.1:n.219+55A>C | ||
| ENST00000495986.1:n.619-13A>C | ||
| NM_001037811.2:c.487-13A>C , LRG_450t2:c.487-13A>C | NP_001032900.1:n.487-13A>C | |
| NM_004493.2:c.487-13A>C , LRG_450t1:c.487-13A>C | NP_004484.1:n.487-13A>C | |
| NM_004493.3:c.487-13A>C MANE Select | NP_004484.1:n.487-13A>C |