Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714403T= , CM000681.2:g.6714403T= | GRCh38 |
| NC_000019.9:g.6714414T= , CM000681.1:g.6714414T= | GRCh37 |
| NC_000019.8:g.6665414T= | NCBI36 |
| NG_009557.1:g.11249A= , LRG_27:g.11249A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.425A= | ENSP00000512083.1:p.Gln142= | |
| ENST00000245907.11:c.548A= MANE Select | ENSP00000245907.4:p.Gln183= | |
| ENST00000245907.10:c.548A= | ENSP00000245907.4:p.Gln183= | |
| NM_000064.3:c.548A= | NP_000055.2:p.Gln183= | |
| NM_000064.4:c.548A= MANE Select | NP_000055.2:p.Gln183= |