Linked Data
dbSNP Id:
rs1568417037
gnomAD v2:
19-41756747-G-A
gnomAD v3:
19-41250842-G-A
gnomAD v4:
19-41250842-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41250842G>A , CM000681.2:g.41250842G>A | GRCh38 |
| NC_000019.9:g.41756747G>A , CM000681.1:g.41756747G>A | GRCh37 |
| NC_000019.8:g.46448587G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301178.9:c.1712-1509G>A MANE Select | ENSP00000301178.3:n.1712-1509G>A | |
| ENST00000301178.8:c.1712-1509G>A | ENSP00000301178.3:n.1712-1509G>A | |
| ENST00000359092.7:c.1685-1509G>A | ENSP00000351995.2:n.1685-1509G>A | |
| ENST00000593513.1:c.908-1509G>A | ENSP00000471497.1:n.908-1509G>A | |
| NM_001278599.1:c.908-1509G>A | NP_001265528.1:n.908-1509G>A | |
| NM_001699.5:c.1685-1509G>A | NP_001690.2:n.1685-1509G>A | |
| NM_021913.4:c.1712-1509G>A | NP_068713.2:n.1712-1509G>A | |
| NM_021913.5:c.1712-1509G>A MANE Select | NP_068713.2:n.1712-1509G>A | |
| NM_001699.6:c.1685-1509G>A | NP_001690.2:n.1685-1509G>A | |
| NM_001278599.2:c.908-1509G>A | NP_001265528.1:n.908-1509G>A |