Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30738249C>A , CM000678.2:g.30738249C>A | GRCh38 |
| NC_000016.9:g.30749570C>A , CM000678.1:g.30749570C>A | GRCh37 |
| NC_000016.8:g.30657071C>A | NCBI36 |
| NG_032135.1:g.44109C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006662.3:c.8209C>A MANE Select | NP_006653.2:p.Arg2737= |
| ENST00000262518.9:c.8209C>A MANE Select | ENSP00000262518.4:p.Arg2737= |
| NM_006662.2:c.8209C>A | NP_006653.2:p.Arg2737= |
| ENST00000262518.8:c.8209C>A | ENSP00000262518.4:p.Arg2737= |
| ENST00000380361.7:c.7678C>A | ENSP00000369719.3:p.Arg2560= |
| ENST00000395059.6:c.7432C>A | ENSP00000378499.3:p.Arg2478= |
| ENST00000411466.7:c.8209C>A | ENSP00000405186.3:p.Arg2737= |
| ENST00000704023.1:c.1758+294C>A | |
| ENST00000706321.1:c.8209C>A | ENSP00000516346.1:p.Arg2737= |