Linked Data
dbSNP Id:
rs2070031232
gnomAD v3:
8-19960789-T-A
gnomAD v4:
8-19960789-T-A
MyVariant Identifiers:
chr8:g.19818300T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960789T>A , CM000670.2:g.19960789T>A | GRCh38 |
| NC_000008.10:g.19818300T>A , CM000670.1:g.19818300T>A | GRCh37 |
| NC_000008.9:g.19862580T>A | NCBI36 |
| NG_008855.1:g.26719T>A | |
| NG_008855.2:g.64073T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1140-112T>A MANE Select | ENSP00000497642.1:n.1140-112T>A | |
| ENST00000650478.1:c.80-112T>A | ENSP00000497560.1:n.80-112T>A | |
| ENST00000311322.8:c.1140-112T>A | ENSP00000309757.6:n.1140-112T>A | |
| NM_000237.2:c.1140-112T>A | NP_000228.1:n.1140-112T>A | |
| NM_000237.3:c.1140-112T>A MANE Select | NP_000228.1:n.1140-112T>A |