Linked Data
ClinVar Variation Id:
161592
ClinVar RCV Id:
RCV000149128
dbSNP Id:
rs193920929
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154771974C>A , CM000663.2:g.154771974C>A | GRCh38 |
| NC_000001.10:g.154744450C>A , CM000663.1:g.154744450C>A | GRCh37 |
| NC_000001.9:g.153011074C>A | NCBI36 |
| NG_016807.2:g.103305G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271915.9:c.1448+1G>T MANE Select | ENSP00000271915.3:n.1448+1G>T | |
| ENST00000271915.8:c.1448+1G>T | ENSP00000271915.3:n.1448+1G>T | |
| ENST00000358505.2:c.509+1G>T | ENSP00000351295.2:n.509+1G>T | |
| ENST00000361147.8:c.533+1G>T | ENSP00000354764.4:n.533+1G>T | |
| ENST00000618040.4:c.1448+1G>T | ENSP00000481848.1:n.1448+1G>T | |
| NM_001204087.1:c.1448+1G>T | NP_001191016.1:n.1448+1G>T | |
| NM_002249.5:c.1448+1G>T | NP_002240.3:n.1448+1G>T | |
| NM_170782.2:c.533+1G>T | NP_740752.1:n.533+1G>T | |
| NM_001365837.1:c.509+1G>T | NP_001352766.1:n.509+1G>T | |
| NM_001365838.1:c.509+1G>T | NP_001352767.1:n.509+1G>T | |
| NM_002249.6:c.1448+1G>T MANE Select | NP_002240.3:n.1448+1G>T | |
| NM_170782.3:c.533+1G>T | NP_740752.1:n.533+1G>T | |
| NM_001204087.2:c.1448+1G>T | NP_001191016.1:n.1448+1G>T |