Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191357121C>T , CM000665.2:g.191357121C>T | GRCh38 |
| NC_000003.11:g.191074910C>T , CM000665.1:g.191074910C>T | GRCh37 |
| NC_000003.10:g.192557604C>T | NCBI36 |
| NG_008994.1:g.33037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.83C>T MANE Select | ENSP00000376249.4:p.Thr28Ile | |
| ENST00000392456.4:c.83C>T | ENSP00000376250.4:p.Thr28Ile | |
| ENST00000392455.7:c.83C>T | ENSP00000376249.3:p.Thr28Ile | |
| ENST00000392456.3:c.83C>T | ENSP00000376250.3:p.Thr28Ile | |
| NM_174908.3:c.83C>T | NP_777568.1:p.Thr28Ile | |
| NM_178335.2:c.83C>T | NP_848018.1:p.Thr28Ile | |
| XM_011512460.1:c.83C>T | XP_011510762.1:p.Thr28Ile | |
| NM_178335.3:c.83C>T MANE Select | NP_848018.1:p.Thr28Ile | |
| NM_174908.4:c.83C>T | NP_777568.1:p.Thr28Ile |