Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816730G= , CM000681.2:g.4816730G= | GRCh38 |
| NC_000019.9:g.4816742G= , CM000681.1:g.4816742G= | GRCh37 |
| NC_000019.8:g.4767742G= | NCBI36 |
| NG_031998.1:g.20013C= , LRG_358:g.20013C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1648C= MANE Select | ENSP00000248244.4:p.Arg550= | |
| ENST00000248244.5:c.1648C= | ENSP00000248244.4:p.Arg550= | |
| ENST00000621756.1:c.1231C= | ENSP00000479467.1:p.Arg411= | |
| NM_182919.3:c.1648C= , LRG_358t1:c.1648C= | NP_891549.1:p.Arg550= | |
| NM_001385678.1:c.1606C= | NP_001372607.1:p.Arg536= | |
| NM_001385679.1:c.1513C= | NP_001372608.1:p.Arg505= | |
| NM_001385680.1:c.1006C= | NP_001372609.1:p.Arg336= | |
| NM_182919.4:c.1648C= MANE Select | NP_891549.1:p.Arg550= |