Linked Data
dbSNP Id:
rs762420608
ExAC:
3:147131164 C / A
gnomAD v2:
3-147131164-C-A
gnomAD v4:
3-147413377-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413377C>A , CM000665.2:g.147413377C>A | GRCh38 |
| NC_000003.11:g.147131164C>A , CM000665.1:g.147131164C>A | GRCh37 |
| NC_000003.10:g.148613854C>A | NCBI36 |
| NG_015886.1:g.8984C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1170C>A MANE Select | ENSP00000282928.4:p.Gly390= | |
| ENST00000282928.4:c.1170C>A | ENSP00000282928.4:p.Gly390= | |
| ENST00000472523.1:n.521+19435C>A | ||
| ENST00000488404.5:c.236C>A | ||
| NM_003412.3:c.1170C>A | NP_003403.2:p.Gly390= | |
| NM_003412.4:c.1170C>A MANE Select | NP_003403.2:p.Gly390= |