Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176804A>T , CM000674.2:g.21176804A>T | GRCh38 |
| NC_000012.11:g.21329738A>T , CM000674.1:g.21329738A>T | GRCh37 |
| NC_000012.10:g.21221005A>T | NCBI36 |
| NG_011745.1:g.50611A>T , LRG_1022:g.50611A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.388A>T MANE Select | ENSP00000256958.2:p.Asn130Tyr | |
| ENST00000256958.2:c.388A>T | ENSP00000256958.2:p.Asn130Tyr | |
| ENST00000543498.5:c.454A>T | ||
| NM_006446.4:c.388A>T , LRG_1022t1:c.388A>T | NP_006437.3:p.Asn130Tyr | |
| NM_006446.5:c.388A>T MANE Select | NP_006437.3:p.Asn130Tyr |