Linked Data
ClinVar Variation Id:
426495
ClinVar RCV Id:
RCV000489832
dbSNP Id:
rs1085307654
gnomAD v2:
19-15662104-G-A
gnomAD v3:
19-15551293-G-A
gnomAD v4:
19-15551293-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15551293G>A , CM000681.2:g.15551293G>A | GRCh38 |
| NC_000019.9:g.15662104G>A , CM000681.1:g.15662104G>A | GRCh37 |
| NC_000019.8:g.15523104G>A | NCBI36 |
| NG_007987.1:g.47769G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269703.8:c.1419-1G>A MANE Select | ENSP00000269703.1:n.1419-1G>A | |
| ENST00000269703.7:c.1419-1G>A | ENSP00000269703.1:n.1419-1G>A | |
| ENST00000601005.2:c.1419-1G>A | ENSP00000469866.1:n.1419-1G>A | |
| NM_173483.3:c.1419-1G>A | NP_775754.2:n.1419-1G>A | |
| XM_011527692.1:c.1419-1G>A | XP_011525994.1:n.1419-1G>A | |
| XM_011527693.1:c.1419-1G>A | XP_011525995.1:n.1419-1G>A | |
| XM_011527692.2:c.1419-1G>A | XP_011525994.1:n.1419-1G>A | |
| XM_011527693.2:c.1419-1G>A | XP_011525995.1:n.1419-1G>A | |
| NM_173483.4:c.1419-1G>A MANE Select | NP_775754.2:n.1419-1G>A |