Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21710596C>A , CM000669.2:g.21710596C>A | GRCh38 |
| NC_000007.13:g.21750214C>A , CM000669.1:g.21750214C>A | GRCh37 |
| NC_000007.12:g.21716739C>A | NCBI36 |
| NG_012886.2:g.172382C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.6727C>A MANE Select | NP_001264044.1:p.Arg2243= |
| ENST00000409508.8:c.6727C>A MANE Select | ENSP00000475939.1:p.Arg2243= |
| NM_001277115.1:c.6727C>A | NP_001264044.1:p.Arg2243= |
| ENST00000328843.10:c.6748C>A | ENSP00000330671.7:p.Arg2250= |
| ENST00000409508.7:c.6727C>A | ENSP00000475939.1:p.Arg2243= |
| ENST00000620169.4:c.6748C>A | ENSP00000481693.1:p.Arg2250= |