Linked Data
dbSNP Id:
rs782601712
ExAC:
12:7083562 G / A
gnomAD v2:
12-7083562-G-A
gnomAD v4:
12-6974400-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6974400G>A , CM000674.2:g.6974400G>A | GRCh38 |
| NC_000012.11:g.7083562G>A , CM000674.1:g.7083562G>A | GRCh37 |
| NC_000012.10:g.6953823G>A | NCBI36 |
| NG_021408.1:g.8620G>A | |
| NG_021408.2:g.8620G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599672.6:c.230G>A MANE Select | ENSP00000470560.1:p.Gly77Glu | |
| ENST00000261406.7:c.212G>A | ENSP00000476966.2:p.Gly71Glu | |
| ENST00000539196.2:c.93G>A | ||
| ENST00000599672.5:c.230G>A | ENSP00000470560.1:p.Gly77Glu | |
| ENST00000607161.5:c.233G>A | ENSP00000480420.1:p.Gly78Glu | |
| ENST00000611981.1:n.241G>A | ||
| ENST00000620255.1:n.219G>A | ||
| NM_006331.7:c.230G>A | NP_006322.4:p.Gly77Glu | |
| XM_011520907.1:c.230G>A | XP_011519209.1:p.Gly77Glu | |
| NM_001320049.1:c.230G>A | NP_001306978.1:p.Gly77Glu | |
| NR_135131.1:n.373G>A | ||
| NM_006331.8:c.230G>A MANE Select | NP_006322.4:p.Gly77Glu | |
| NM_001320049.2:c.230G>A | NP_001306978.1:p.Gly77Glu | |
| NR_135131.2:n.241G>A |