Linked Data
dbSNP Id:
rs374300121
ExAC:
6:31602958 G / A
gnomAD v2:
6-31602958-G-A
gnomAD v3:
6-31635181-G-A
gnomAD v4:
6-31635181-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31635181G>A , CM000668.2:g.31635181G>A | GRCh38 |
| NC_000006.11:g.31602958G>A , CM000668.1:g.31602958G>A | GRCh37 |
| NC_000006.10:g.31710937G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.5210G>A MANE Select | ENSP00000365201.2:p.Arg1737Gln | |
| ENST00000376007.8:c.5210G>A | ENSP00000365175.4:p.Arg1737Gln | |
| ENST00000376033.2:c.5210G>A | ENSP00000365201.2:p.Arg1737Gln | |
| ENST00000484787.1:n.621G>A | ||
| NM_004638.3:c.5210G>A | NP_004629.3:p.Arg1737Gln | |
| NM_080686.2:c.5210G>A | NP_542417.2:p.Arg1737Gln | |
| XM_011514890.1:c.5210G>A | XP_011513192.1:p.Arg1737Gln | |
| XM_017011274.1:c.5210G>A | XP_016866763.1:p.Arg1737Gln | |
| NM_004638.4:c.5210G>A MANE Select | NP_004629.3:p.Arg1737Gln | |
| NM_080686.3:c.5210G>A | NP_542417.2:p.Arg1737Gln |