Linked Data
dbSNP Id:
rs1053344780
gnomAD v2:
8-19809592-G-A
gnomAD v3:
8-19952081-G-A
gnomAD v4:
8-19952081-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19952081G>A , CM000670.2:g.19952081G>A | GRCh38 |
| NC_000008.10:g.19809592G>A , CM000670.1:g.19809592G>A | GRCh37 |
| NC_000008.9:g.19853872G>A | NCBI36 |
| NG_008855.1:g.18011G>A | |
| NG_008855.2:g.55365G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.429+133G>A MANE Select | ENSP00000497642.1:n.429+133G>A | |
| ENST00000311322.8:c.429+133G>A | ENSP00000309757.6:n.429+133G>A | |
| ENST00000520959.5:c.201+133G>A | ENSP00000428496.1:n.201+133G>A | |
| NM_000237.2:c.429+133G>A | NP_000228.1:n.429+133G>A | |
| NM_000237.3:c.429+133G>A MANE Select | NP_000228.1:n.429+133G>A |