Linked Data
ClinVar Variation Id:
1799516
ClinVar RCV Id:
RCV002444363
gnomAD v3:
1-154992790-A-G
gnomAD v4:
1-154992790-A-G
MutSpliceDB:
CA1007966009
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154992790A>G , CM000663.2:g.154992790A>G | GRCh38 |
| NC_000001.10:g.154965266A>G , CM000663.1:g.154965266A>G | GRCh37 |
| NC_000001.9:g.153231890A>G | NCBI36 |
| NG_042310.1:g.14497A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292180.8:c.1628+4A>G MANE Select | ENSP00000292180.3:n.1628+4A>G | |
| ENST00000292180.7:c.1628+4A>G | ENSP00000292180.3:n.1628+4A>G | |
| ENST00000295530.6:c.*12-112A>G | ENSP00000295530.2:n.*12-112A>G | |
| ENST00000315144.14:c.1337+4A>G | ENSP00000317296.10:n.1337+4A>G | |
| ENST00000368428.1:c.251+4A>G | ENSP00000357413.1:n.251+4A>G | |
| ENST00000368432.5:c.1341A>G | ENSP00000357417.1:p.Ter447= | |
| ENST00000477609.5:n.345-112A>G | ||
| ENST00000481758.1:n.198+4A>G | ||
| ENST00000489992.5:n.438+4A>G | ||
| NM_001184891.1:c.1341A>G | NP_001171820.1:p.Ter447= | |
| NM_025207.4:c.1628+4A>G | NP_079483.3:n.1628+4A>G | |
| NM_201398.2:c.1337+4A>G | NP_958800.1:n.1337+4A>G | |
| XM_005245503.2:c.827+4A>G | XP_005245560.1:n.827+4A>G | |
| XR_241098.3:n.1398+4A>G | ||
| NM_025207.5:c.1628+4A>G MANE Select | NP_079483.3:n.1628+4A>G | |
| NM_001184891.2:c.1341A>G | NP_001171820.1:p.Ter447= | |
| NM_201398.3:c.1337+4A>G | NP_958800.1:n.1337+4A>G |