Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956499T= , CM000670.2:g.24956499T= | GRCh38 |
| NC_000008.10:g.24814013T= , CM000670.1:g.24814013T= | GRCh37 |
| NC_000008.9:g.24869930T= | NCBI36 |
| NG_008492.1:g.5119A= , LRG_259:g.5119A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.17A= MANE Select | ENSP00000482169.2:p.Tyr6= | |
| ENST00000610854.1:c.17A= | ENSP00000482169.1:p.Tyr6= | |
| ENST00000615973.1:n.223A= | ||
| ENST00000619417.1:c.17A= | ENSP00000483690.1:p.Tyr6= | |
| NM_006158.4:c.17A= , LRG_259t1:c.17A= | NP_006149.2:p.Tyr6= | |
| NM_006158.5:c.17A= MANE Select | NP_006149.2:p.Tyr6= |