Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30729116G>A , CM000678.2:g.30729116G>A | GRCh38 |
| NC_000016.9:g.30740437G>A , CM000678.1:g.30740437G>A | GRCh37 |
| NC_000016.8:g.30647938G>A | NCBI36 |
| NG_032135.1:g.34976G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006662.3:c.5809G>A MANE Select | NP_006653.2:p.Gly1937Ser |
| ENST00000262518.9:c.5809G>A MANE Select | ENSP00000262518.4:p.Gly1937Ser |
| NM_006662.2:c.5809G>A | NP_006653.2:p.Gly1937Ser |
| ENST00000262518.8:c.5809G>A | ENSP00000262518.4:p.Gly1937Ser |
| ENST00000380361.7:c.5278G>A | ENSP00000369719.3:p.Gly1760Ser |
| ENST00000395059.6:c.5032G>A | ENSP00000378499.3:p.Gly1678Ser |
| ENST00000411466.7:c.5809G>A | ENSP00000405186.3:p.Gly1937Ser |
| ENST00000704023.1:c.89G>A | |
| ENST00000706321.1:c.5809G>A | ENSP00000516346.1:p.Gly1937Ser |