Linked Data
dbSNP Id:
rs775593290
ExAC:
6:31603000 G / A
gnomAD v2:
6-31603000-G-A
gnomAD v3:
6-31635223-G-A
gnomAD v4:
6-31635223-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31635223G>A , CM000668.2:g.31635223G>A | GRCh38 |
| NC_000006.11:g.31603000G>A , CM000668.1:g.31603000G>A | GRCh37 |
| NC_000006.10:g.31710979G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.5252G>A MANE Select | ENSP00000365201.2:p.Arg1751Gln | |
| ENST00000376007.8:c.5252G>A | ENSP00000365175.4:p.Arg1751Gln | |
| ENST00000376033.2:c.5252G>A | ENSP00000365201.2:p.Arg1751Gln | |
| ENST00000484787.1:n.663G>A | ||
| NM_004638.3:c.5252G>A | NP_004629.3:p.Arg1751Gln | |
| NM_080686.2:c.5252G>A | NP_542417.2:p.Arg1751Gln | |
| XM_011514890.1:c.5252G>A | XP_011513192.1:p.Arg1751Gln | |
| XM_017011274.1:c.5252G>A | XP_016866763.1:p.Arg1751Gln | |
| NM_004638.4:c.5252G>A MANE Select | NP_004629.3:p.Arg1751Gln | |
| NM_080686.3:c.5252G>A | NP_542417.2:p.Arg1751Gln |