Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21816607C>A , CM000669.2:g.21816607C>A | GRCh38 |
| NC_000007.13:g.21856225C>A , CM000669.1:g.21856225C>A | GRCh37 |
| NC_000007.12:g.21822750C>A | NCBI36 |
| NG_012886.2:g.278393C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.10473C>A MANE Select | ENSP00000475939.1:p.Arg3491= | |
| ENST00000328843.10:c.10494C>A | ENSP00000330671.7:p.Arg3498= | |
| ENST00000409508.7:c.10473C>A | ENSP00000475939.1:p.Arg3491= | |
| ENST00000620169.4:c.10494C>A | ENSP00000481693.1:p.Arg3498= | |
| NM_001277115.1:c.10473C>A | NP_001264044.1:p.Arg3491= | |
| NM_001277115.2:c.10473C>A MANE Select | NP_001264044.1:p.Arg3491= |