Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713457G= , CM000681.2:g.6713457G= | GRCh38 |
| NC_000019.9:g.6713468G= , CM000681.1:g.6713468G= | GRCh37 |
| NC_000019.8:g.6664468G= | NCBI36 |
| NG_009557.1:g.12195C= , LRG_27:g.12195C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.703C= | ENSP00000512083.1:p.Gln235= | |
| ENST00000695692.1:n.150C= | ||
| ENST00000245907.11:c.826C= MANE Select | ENSP00000245907.4:p.Gln276= | |
| ENST00000245907.10:c.826C= | ENSP00000245907.4:p.Gln276= | |
| ENST00000595577.1:n.330C= | ||
| ENST00000597442.5:n.76C= | ||
| NM_000064.3:c.826C= | NP_000055.2:p.Gln276= | |
| NM_000064.4:c.826C= MANE Select | NP_000055.2:p.Gln276= |