Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30716310C>G , CM000678.2:g.30716310C>G | GRCh38 |
| NC_000016.9:g.30727631C>G , CM000678.1:g.30727631C>G | GRCh37 |
| NC_000016.8:g.30635132C>G | NCBI36 |
| NG_032135.1:g.22170C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006662.3:c.2648C>G MANE Select | NP_006653.2:p.Ala883Gly |
| ENST00000262518.9:c.2648C>G MANE Select | ENSP00000262518.4:p.Ala883Gly |
| NM_006662.2:c.2648C>G | NP_006653.2:p.Ala883Gly |
| ENST00000262518.8:c.2648C>G | ENSP00000262518.4:p.Ala883Gly |
| ENST00000380361.7:c.2591C>G | ENSP00000369719.3:p.Ala864Gly |
| ENST00000395059.6:c.2057C>G | ENSP00000378499.3:p.Ala686Gly |
| ENST00000411466.7:c.2648C>G | ENSP00000405186.3:p.Ala883Gly |
| ENST00000483083.3:c.1747C>G | |
| ENST00000706321.1:c.2648C>G | ENSP00000516346.1:p.Ala883Gly |