Linked Data
ClinVar Variation Id:
428702
dbSNP Id:
rs1131690880
gnomAD v4:
13-48345200-G-T
PubMed:
PMID:22084214
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48345200G>T , CM000675.2:g.48345200G>T | GRCh38 |
| NC_000013.10:g.48919336G>T , CM000675.1:g.48919336G>T | GRCh37 |
| NC_000013.9:g.47817337G>T | NCBI36 |
| NG_009009.1:g.46454G>T , LRG_517:g.46454G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.500+1G>T MANE Select | ENSP00000267163.4:n.500+1G>T | |
| ENST00000650461.1:c.500+1G>T | ENSP00000497193.1:n.500+1G>T | |
| ENST00000267163.4:c.500+1G>T | ENSP00000267163.4:n.500+1G>T | |
| ENST00000467505.5:c.138-14817G>T | ENSP00000434702.1:n.138-14817G>T | |
| ENST00000525036.1:n.662+1G>T | ||
| NM_000321.2:c.500+1G>T , LRG_517t1:c.500+1G>T | NP_000312.2:n.500+1G>T | |
| XM_011535171.1:c.239+1G>T | XP_011533473.1:n.239+1G>T | |
| XM_011535171.2:c.239+1G>T | XP_011533473.1:n.239+1G>T | |
| NM_000321.3:c.500+1G>T MANE Select | NP_000312.2:n.500+1G>T |