Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30710067A>G , CM000678.2:g.30710067A>G | GRCh38 |
| NC_000016.9:g.30721388A>G , CM000678.1:g.30721388A>G | GRCh37 |
| NC_000016.8:g.30628889A>G | NCBI36 |
| NG_032135.1:g.15927A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006662.3:c.1073A>G MANE Select | NP_006653.2:p.Asp358Gly |
| ENST00000262518.9:c.1073A>G MANE Select | ENSP00000262518.4:p.Asp358Gly |
| NM_006662.2:c.1073A>G | NP_006653.2:p.Asp358Gly |
| ENST00000262518.8:c.1073A>G | ENSP00000262518.4:p.Asp358Gly |
| ENST00000380361.7:c.1016A>G | ENSP00000369719.3:p.Asp339Gly |
| ENST00000395059.6:c.482A>G | ENSP00000378499.3:p.Asp161Gly |
| ENST00000411466.7:c.1073A>G | ENSP00000405186.3:p.Asp358Gly |
| ENST00000483083.3:c.172A>G | |
| ENST00000706321.1:c.1073A>G | ENSP00000516346.1:p.Asp358Gly |