Linked Data
dbSNP Id:
rs748496757
ExAC:
1:101005469 G / A
gnomAD v2:
1-101005469-G-A
gnomAD v4:
1-100539913-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539913G>A , CM000663.2:g.100539913G>A | GRCh38 |
| NC_000001.10:g.101005469G>A , CM000663.1:g.101005469G>A | GRCh37 |
| NC_000001.9:g.100778057G>A | NCBI36 |
| NG_053134.1:g.6742G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.947G>A MANE Select | ENSP00000314223.4:p.Gly316Glu | |
| ENST00000315033.4:c.947G>A | ENSP00000314223.4:p.Gly316Glu | |
| NM_022049.2:c.947G>A | NP_071332.2:p.Gly316Glu | |
| NM_022049.3:c.947G>A MANE Select | NP_071332.2:p.Gly316Glu |