Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951783T>A , CM000670.2:g.19951783T>A | GRCh38 |
| NC_000008.10:g.19809294T>A , CM000670.1:g.19809294T>A | GRCh37 |
| NC_000008.9:g.19853574T>A | NCBI36 |
| NG_008855.1:g.17713T>A | |
| NG_008855.2:g.55067T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.264T>A MANE Select | NP_000228.1:p.Tyr88Ter |
| ENST00000650287.1:c.264T>A MANE Select | ENSP00000497642.1:p.Tyr88Ter |
| NM_000237.2:c.264T>A | NP_000228.1:p.Tyr88Ter |
| ENST00000311322.8:c.264T>A | ENSP00000309757.6:p.Tyr88Ter |
| ENST00000520959.5:c.36T>A | ENSP00000428496.1:p.Tyr12Ter |
| ENST00000521994.1:n.521T>A | |
| ENST00000522701.5:c.264T>A | ENSP00000428557.1:p.Tyr88Ter |
| ENST00000524029.5:c.264T>A | ENSP00000428237.1:p.Tyr88Ter |