Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816738C= , CM000681.2:g.4816738C= | GRCh38 |
| NC_000019.9:g.4816750C= , CM000681.1:g.4816750C= | GRCh37 |
| NC_000019.8:g.4767750C= | NCBI36 |
| NG_031998.1:g.20005G= , LRG_358:g.20005G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1640G= MANE Select | ENSP00000248244.4:p.Arg547= | |
| ENST00000248244.5:c.1640G= | ENSP00000248244.4:p.Arg547= | |
| ENST00000621756.1:c.1223G= | ENSP00000479467.1:p.Arg408= | |
| NM_182919.3:c.1640G= , LRG_358t1:c.1640G= | NP_891549.1:p.Arg547= | |
| NM_001385678.1:c.1598G= | NP_001372607.1:p.Arg533= | |
| NM_001385679.1:c.1505G= | NP_001372608.1:p.Arg502= | |
| NM_001385680.1:c.998G= | NP_001372609.1:p.Arg333= | |
| NM_182919.4:c.1640G= MANE Select | NP_891549.1:p.Arg547= |