Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816655G= , CM000681.2:g.4816655G= | GRCh38 |
| NC_000019.9:g.4816667G= , CM000681.1:g.4816667G= | GRCh37 |
| NC_000019.8:g.4767667G= | NCBI36 |
| NG_031998.1:g.20088C= , LRG_358:g.20088C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1723C= MANE Select | ENSP00000248244.4:p.Gln575= | |
| ENST00000248244.5:c.1723C= | ENSP00000248244.4:p.Gln575= | |
| ENST00000621756.1:c.1306C= | ENSP00000479467.1:p.Gln436= | |
| NM_182919.3:c.1723C= , LRG_358t1:c.1723C= | NP_891549.1:p.Gln575= | |
| NM_001385678.1:c.1681C= | NP_001372607.1:p.Gln561= | |
| NM_001385679.1:c.1588C= | NP_001372608.1:p.Gln530= | |
| NM_001385680.1:c.1081C= | NP_001372609.1:p.Gln361= | |
| NM_182919.4:c.1723C= MANE Select | NP_891549.1:p.Gln575= |