Linked Data
dbSNP Id:
rs148942765
ExAC:
12:56437224 C / A
gnomAD v2:
12-56437224-C-A
gnomAD v4:
12-56043440-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56043440C>A , CM000674.2:g.56043440C>A | GRCh38 |
| NC_000012.11:g.56437224C>A , CM000674.1:g.56437224C>A | GRCh37 |
| NC_000012.10:g.54723491C>A | NCBI36 |
| NG_023201.1:g.6539C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356464.10:c.259C>A | ENSP00000348849.5:p.Arg87= | |
| ENST00000646449.2:c.259C>A MANE Select | ENSP00000496643.1:p.Arg87= | |
| ENST00000356464.9:c.259C>A | ENSP00000348849.5:p.Arg87= | |
| ENST00000548590.1:n.1046C>A | ||
| ENST00000552361.1:c.259C>A | ENSP00000450339.1:p.Arg87= | |
| NM_001029.3:c.259C>A | NP_001020.2:p.Arg87= | |
| NM_001029.5:c.259C>A MANE Select | NP_001020.2:p.Arg87= |