Linked Data
dbSNP Id:
rs966010799
gnomAD v2:
8-87683189-T-A
gnomAD v3:
8-86670961-T-A
gnomAD v4:
8-86670961-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670961T>A , CM000670.2:g.86670961T>A | GRCh38 |
| NC_000008.10:g.87683189T>A , CM000670.1:g.87683189T>A | GRCh37 |
| NC_000008.9:g.87752305T>A | NCBI36 |
| NG_016980.1:g.77715A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.476A>T MANE Select | ENSP00000316605.5:p.Glu159Val | |
| ENST00000680314.1:n.237A>T | ||
| ENST00000681746.1:c.476A>T | ENSP00000505959.1:p.Glu159Val | |
| ENST00000320005.5:c.476A>T | ENSP00000316605.5:p.Glu159Val | |
| NM_019098.4:c.476A>T | NP_061971.3:p.Glu159Val | |
| XM_011517138.1:c.62A>T | XP_011515440.1:p.Glu21Val | |
| XM_011517138.2:c.62A>T | XP_011515440.1:p.Glu21Val | |
| NM_019098.5:c.476A>T MANE Select | NP_061971.3:p.Glu159Val |