Linked Data
ClinVar Variation Id:
2696371
ClinVar RCV Id:
RCV003528546
dbSNP Id:
rs1699394680
gnomAD v3:
3-30674261-G-A
gnomAD v4:
3-30674261-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30674261G>A , CM000665.2:g.30674261G>A | GRCh38 |
| NC_000003.11:g.30715753G>A , CM000665.1:g.30715753G>A | GRCh37 |
| NC_000003.10:g.30690757G>A | NCBI36 |
| NG_007490.1:g.72760G>A , LRG_779:g.72760G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1396+15G>A MANE Select | ENSP00000295754.5:n.1396+15G>A | |
| ENST00000672866.1:n.2992+15G>A | ||
| ENST00000673203.1:n.274+15G>A | ||
| ENST00000295754.9:c.1396+15G>A | ENSP00000295754.5:n.1396+15G>A | |
| ENST00000359013.4:c.1471+15G>A | ENSP00000351905.4:n.1471+15G>A | |
| NM_001024847.2:c.1471+15G>A , LRG_779t1:c.1471+15G>A | NP_001020018.1:n.1471+15G>A | |
| NM_003242.5:c.1396+15G>A | NP_003233.4:n.1396+15G>A | |
| XM_011534043.1:c.1423+15G>A | XP_011532345.1:n.1423+15G>A | |
| XM_011534044.1:c.1348+15G>A | XP_011532346.1:n.1348+15G>A | |
| XM_011534045.1:c.1291+15G>A | XP_011532347.1:n.1291+15G>A | |
| XM_011534043.2:c.1423+15G>A | XP_011532345.1:n.1423+15G>A | |
| XM_011534045.3:c.1291+15G>A | XP_011532347.1:n.1291+15G>A | |
| XM_017007106.1:c.1291+15G>A | XP_016862595.1:n.1291+15G>A | |
| NM_003242.6:c.1396+15G>A MANE Select | NP_003233.4:n.1396+15G>A |