Linked Data
ClinVar Variation Id:
430019
ClinVar RCV Id:
RCV000493179
dbSNP Id:
rs1045109000
gnomAD v3:
19-15544148-A-G
gnomAD v4:
19-15544148-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15544148A>G , CM000681.2:g.15544148A>G | GRCh38 |
| NC_000019.9:g.15654959A>G , CM000681.1:g.15654959A>G | GRCh37 |
| NC_000019.8:g.15515959A>G | NCBI36 |
| NG_007987.1:g.40624A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269703.8:c.1007-2A>G MANE Select | ENSP00000269703.1:n.1007-2A>G | |
| ENST00000269703.7:c.1007-2A>G | ENSP00000269703.1:n.1007-2A>G | |
| ENST00000601005.2:c.1007-2A>G | ENSP00000469866.1:n.1007-2A>G | |
| NM_173483.3:c.1007-2A>G | NP_775754.2:n.1007-2A>G | |
| XM_011527692.1:c.1007-2A>G | XP_011525994.1:n.1007-2A>G | |
| XM_011527693.1:c.1007-2A>G | XP_011525995.1:n.1007-2A>G | |
| XM_011527692.2:c.1007-2A>G | XP_011525994.1:n.1007-2A>G | |
| XM_011527693.2:c.1007-2A>G | XP_011525995.1:n.1007-2A>G | |
| NM_173483.4:c.1007-2A>G MANE Select | NP_775754.2:n.1007-2A>G |