Linked Data
dbSNP Id:
rs759643328
ExAC:
6:31602999 C / A
gnomAD v2:
6-31602999-C-A
gnomAD v4:
6-31635222-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31635222C>A , CM000668.2:g.31635222C>A | GRCh38 |
| NC_000006.11:g.31602999C>A , CM000668.1:g.31602999C>A | GRCh37 |
| NC_000006.10:g.31710978C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.5251C>A MANE Select | ENSP00000365201.2:p.Arg1751= | |
| ENST00000376007.8:c.5251C>A | ENSP00000365175.4:p.Arg1751= | |
| ENST00000376033.2:c.5251C>A | ENSP00000365201.2:p.Arg1751= | |
| ENST00000484787.1:n.662C>A | ||
| NM_004638.3:c.5251C>A | NP_004629.3:p.Arg1751= | |
| NM_080686.2:c.5251C>A | NP_542417.2:p.Arg1751= | |
| XM_011514890.1:c.5251C>A | XP_011513192.1:p.Arg1751= | |
| XM_017011274.1:c.5251C>A | XP_016866763.1:p.Arg1751= | |
| NM_004638.4:c.5251C>A MANE Select | NP_004629.3:p.Arg1751= | |
| NM_080686.3:c.5251C>A | NP_542417.2:p.Arg1751= |