Linked Data
ClinVar Variation Id:
425688
ClinVar RCV Id:
RCV000488483
dbSNP Id:
rs1085307155
PubMed:
PMID:26387786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202377551G>T , CM000664.2:g.202377551G>T | GRCh38 |
| NC_000002.11:g.203242274G>T , CM000664.1:g.203242274G>T | GRCh37 |
| NC_000002.10:g.202950519G>T | NCBI36 |
| NG_009363.1:g.6225G>T , LRG_712:g.6225G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.76+1G>T MANE Select | ENSP00000363708.4:n.76+1G>T | |
| ENST00000374574.2:c.76+1G>T | ENSP00000363702.2:n.76+1G>T | |
| ENST00000374580.8:c.76+1G>T | ENSP00000363708.4:n.76+1G>T | |
| NM_001204.6:c.76+1G>T , LRG_712t1:c.76+1G>T | NP_001195.2:n.76+1G>T | |
| XM_011511687.1:c.76+1G>T | XP_011509989.1:n.76+1G>T | |
| XM_011511688.1:c.76+1G>T | XP_011509990.1:n.76+1G>T | |
| NM_001204.7:c.76+1G>T MANE Select | NP_001195.2:n.76+1G>T |