Linked Data
ClinVar Variation Id:
428709
dbSNP Id:
rs1131690882
gnomAD v4:
13-48465112-G-A
PubMed:
PMID:15884040
MutSpliceDB:
CA388167737
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48465112G>A , CM000675.2:g.48465112G>A | GRCh38 |
| NC_000013.10:g.49039248G>A , CM000675.1:g.49039248G>A | GRCh37 |
| NC_000013.9:g.47937249G>A | NCBI36 |
| NG_009009.1:g.166366G>A , LRG_517:g.166366G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2325+1G>A MANE Select | ENSP00000267163.4:n.2325+1G>A | |
| ENST00000643064.1:c.194+83669G>A | ||
| ENST00000650461.1:c.2325+1G>A | ENSP00000497193.1:n.2325+1G>A | |
| ENST00000267163.4:c.2325+1G>A | ENSP00000267163.4:n.2325+1G>A | |
| NM_000321.2:c.2325+1G>A , LRG_517t1:c.2325+1G>A | NP_000312.2:n.2325+1G>A | |
| XM_011535171.1:c.2064+1G>A | XP_011533473.1:n.2064+1G>A | |
| XM_011535171.2:c.2064+1G>A | XP_011533473.1:n.2064+1G>A | |
| NM_000321.3:c.2325+1G>A MANE Select | NP_000312.2:n.2325+1G>A |