Linked Data
dbSNP Id:
rs773015924
ExAC:
6:132211485 G / A
gnomAD v2:
6-132211485-G-A
gnomAD v4:
6-131890345-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890345G>A , CM000668.2:g.131890345G>A | GRCh38 |
| NC_000006.11:g.132211485G>A , CM000668.1:g.132211485G>A | GRCh37 |
| NC_000006.10:g.132253178G>A | NCBI36 |
| NG_008206.1:g.87330G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1043G>A | ||
| ENST00000647893.1:c.2612G>A MANE Select | ENSP00000498074.1:p.Gly871Glu | |
| ENST00000360971.6:c.2612G>A | ENSP00000354238.2:p.Gly871Glu | |
| ENST00000513998.5:c.*1449G>A | ENSP00000422424.1:n.*1449G>A | |
| NM_006208.2:c.2612G>A | NP_006199.2:p.Gly871Glu | |
| XM_011535896.1:c.1502G>A | XP_011534198.1:p.Gly501Glu | |
| NM_006208.3:c.2612G>A MANE Select | NP_006199.2:p.Gly871Glu |