Linked Data
ClinVar Variation Id:
1912401
ClinVar RCV Id:
RCV002600843
dbSNP Id:
rs756096429
ExAC:
1:203690319 C / T
gnomAD v2:
1-203690319-C-T
gnomAD v3:
1-203721191-C-T
gnomAD v4:
1-203721191-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203721191C>T , CM000663.2:g.203721191C>T | GRCh38 |
| NC_000001.10:g.203690319C>T , CM000663.1:g.203690319C>T | GRCh37 |
| NC_000001.9:g.201956942C>T | NCBI36 |
| NG_029589.1:g.99405C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341360.7:c.2599-6C>T | ENSP00000340930.2:n.2599-6C>T | |
| ENST00000705901.1:c.2563-6C>T | ENSP00000516177.1:n.2563-6C>T | |
| ENST00000357681.10:c.2599-6C>T MANE Select | ENSP00000350310.5:n.2599-6C>T | |
| ENST00000341360.6:c.2599-6C>T | ENSP00000340930.2:n.2599-6C>T | |
| ENST00000357681.9:c.2599-6C>T | ENSP00000350310.5:n.2599-6C>T | |
| ENST00000367218.7:c.2599-6C>T | ENSP00000356187.3:n.2599-6C>T | |
| NM_001001396.2:c.2599-6C>T | NP_001001396.1:n.2599-6C>T | |
| NM_001684.4:c.2599-6C>T | NP_001675.3:n.2599-6C>T | |
| NM_001365783.1:c.2599-6C>T | NP_001352712.1:n.2599-6C>T | |
| NM_001365784.1:c.2599-6C>T | NP_001352713.1:n.2599-6C>T | |
| NM_001365783.2:c.2599-6C>T | NP_001352712.1:n.2599-6C>T | |
| NM_001684.5:c.2599-6C>T MANE Select | NP_001675.3:n.2599-6C>T | |
| NM_001001396.3:c.2599-6C>T | NP_001001396.1:n.2599-6C>T | |
| NM_001365784.2:c.2599-6C>T | NP_001352713.1:n.2599-6C>T |