Linked Data
dbSNP Id:
rs2069979437
gnomAD v4:
8-19955845-G-A
MyVariant Identifiers:
chr8:g.19813356G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955845G>A , CM000670.2:g.19955845G>A | GRCh38 |
| NC_000008.10:g.19813356G>A , CM000670.1:g.19813356G>A | GRCh37 |
| NC_000008.9:g.19857636G>A | NCBI36 |
| NG_008855.1:g.21775G>A | |
| NG_008855.2:g.59129G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.780G>A MANE Select | ENSP00000497642.1:p.Val260= | |
| ENST00000311322.8:c.780G>A | ENSP00000309757.6:p.Val260= | |
| NM_000237.2:c.780G>A | NP_000228.1:p.Val260= | |
| NM_000237.3:c.780G>A MANE Select | NP_000228.1:p.Val260= |