Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714397T= , CM000681.2:g.6714397T= | GRCh38 |
| NC_000019.9:g.6714408T= , CM000681.1:g.6714408T= | GRCh37 |
| NC_000019.8:g.6665408T= | NCBI36 |
| NG_009557.1:g.11255A= , LRG_27:g.11255A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.431A= | ENSP00000512083.1:p.Gln144= | |
| ENST00000245907.11:c.554A= MANE Select | ENSP00000245907.4:p.Gln185= | |
| ENST00000245907.10:c.554A= | ENSP00000245907.4:p.Gln185= | |
| NM_000064.3:c.554A= | NP_000055.2:p.Gln185= | |
| NM_000064.4:c.554A= MANE Select | NP_000055.2:p.Gln185= |