Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30704141C>T , CM000678.2:g.30704141C>T | GRCh38 |
| NC_000016.9:g.30715462C>T , CM000678.1:g.30715462C>T | GRCh37 |
| NC_000016.8:g.30622963C>T | NCBI36 |
| NG_032135.1:g.10001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.132C>T | ENSP00000405186.3:p.Gly44= | |
| ENST00000706321.1:c.132C>T | ENSP00000516346.1:p.Gly44= | |
| ENST00000262518.9:c.132C>T MANE Select | ENSP00000262518.4:p.Gly44= | |
| ENST00000262518.8:c.132C>T | ENSP00000262518.4:p.Gly44= | |
| ENST00000380361.7:c.75C>T | ENSP00000369719.3:p.Gly25= | |
| ENST00000411466.6:c.132C>T | ENSP00000405186.2:p.Gly44= | |
| NM_006662.2:c.132C>T | NP_006653.2:p.Gly44= | |
| NM_006662.3:c.132C>T MANE Select | NP_006653.2:p.Gly44= |