Linked Data
dbSNP Id:
rs766600503
ExAC:
8:87751951 C / T
gnomAD v2:
8-87751951-C-T
gnomAD v3:
8-86739723-C-T
gnomAD v4:
8-86739723-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739723C>T , CM000670.2:g.86739723C>T | GRCh38 |
| NC_000008.10:g.87751951C>T , CM000670.1:g.87751951C>T | GRCh37 |
| NC_000008.9:g.87821067C>T | NCBI36 |
| NG_016980.1:g.8953G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.143G>A MANE Select | ENSP00000316605.5:p.Gly48Asp | |
| ENST00000681746.1:c.143G>A | ENSP00000505959.1:p.Gly48Asp | |
| ENST00000320005.5:c.143G>A | ENSP00000316605.5:p.Gly48Asp | |
| ENST00000519777.1:n.125G>A | ||
| NM_019098.4:c.143G>A | NP_061971.3:p.Gly48Asp | |
| NM_019098.5:c.143G>A MANE Select | NP_061971.3:p.Gly48Asp |