Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85465357T>G , CM000670.2:g.85465357T>G | GRCh38 |
| NC_000008.10:g.86377586T>G , CM000670.1:g.86377586T>G | GRCh37 |
| NC_000008.9:g.86564838T>G | NCBI36 |
| NG_007287.1:g.6341T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285379.10:c.120T>G MANE Select | ENSP00000285379.4:p.Tyr40Ter | |
| ENST00000285379.9:c.120T>G | ENSP00000285379.4:p.Tyr40Ter | |
| ENST00000518231.1:n.191T>G | ||
| ENST00000520127.5:c.120T>G | ENSP00000428443.1:p.Tyr40Ter | |
| ENST00000520996.5:n.199T>G | ||
| ENST00000522742.1:c.120T>G | ENSP00000428947.1:p.Tyr40Ter | |
| NM_000067.2:c.120T>G | NP_000058.1:p.Tyr40Ter | |
| NM_001293675.1:c.-65T>G | NP_001280604.1:n.-65T>G | |
| NM_000067.3:c.120T>G MANE Select | NP_000058.1:p.Tyr40Ter | |
| NM_001293675.2:c.-65T>G | NP_001280604.1:n.-65T>G |