Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30729495G>A , CM000678.2:g.30729495G>A | GRCh38 |
| NC_000016.9:g.30740816G>A , CM000678.1:g.30740816G>A | GRCh37 |
| NC_000016.8:g.30648317G>A | NCBI36 |
| NG_032135.1:g.35355G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006662.3:c.6050G>A MANE Select | NP_006653.2:p.Arg2017Gln |
| ENST00000262518.9:c.6050G>A MANE Select | ENSP00000262518.4:p.Arg2017Gln |
| NM_006662.2:c.6050G>A | NP_006653.2:p.Arg2017Gln |
| ENST00000262518.8:c.6050G>A | ENSP00000262518.4:p.Arg2017Gln |
| ENST00000380361.7:c.5519G>A | ENSP00000369719.3:p.Arg1840Gln |
| ENST00000395059.6:c.5273G>A | ENSP00000378499.3:p.Arg1758Gln |
| ENST00000411466.7:c.6050G>A | ENSP00000405186.3:p.Arg2017Gln |
| ENST00000704023.1:c.330G>A | |
| ENST00000706321.1:c.6050G>A | ENSP00000516346.1:p.Arg2017Gln |