Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30704266G>C , CM000678.2:g.30704266G>C | GRCh38 |
| NC_000016.9:g.30715587G>C , CM000678.1:g.30715587G>C | GRCh37 |
| NC_000016.8:g.30623088G>C | NCBI36 |
| NG_032135.1:g.10126G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.257G>C | ENSP00000405186.3:p.Gly86Ala | |
| ENST00000706321.1:c.257G>C | ENSP00000516346.1:p.Gly86Ala | |
| ENST00000262518.9:c.257G>C MANE Select | ENSP00000262518.4:p.Gly86Ala | |
| ENST00000262518.8:c.257G>C | ENSP00000262518.4:p.Gly86Ala | |
| ENST00000380361.7:c.200G>C | ENSP00000369719.3:p.Gly67Ala | |
| ENST00000411466.6:c.257G>C | ENSP00000405186.2:p.Gly86Ala | |
| NM_006662.2:c.257G>C | NP_006653.2:p.Gly86Ala | |
| NM_006662.3:c.257G>C MANE Select | NP_006653.2:p.Gly86Ala |