Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816693T>C , CM000681.2:g.4816693T>C | GRCh38 |
| NC_000019.9:g.4816705T>C , CM000681.1:g.4816705T>C | GRCh37 |
| NC_000019.8:g.4767705T>C | NCBI36 |
| NG_031998.1:g.20050A>G , LRG_358:g.20050A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1685A>G MANE Select | ENSP00000248244.4:p.Gln562Arg | |
| ENST00000248244.5:c.1685A>G | ENSP00000248244.4:p.Gln562Arg | |
| ENST00000621756.1:c.1268A>G | ENSP00000479467.1:p.Gln423Arg | |
| NM_182919.3:c.1685A>G , LRG_358t1:c.1685A>G | NP_891549.1:p.Gln562Arg | |
| NM_001385678.1:c.1643A>G | NP_001372607.1:p.Gln548Arg | |
| NM_001385679.1:c.1550A>G | NP_001372608.1:p.Gln517Arg | |
| NM_001385680.1:c.1043A>G | NP_001372609.1:p.Gln348Arg | |
| NM_182919.4:c.1685A>G MANE Select | NP_891549.1:p.Gln562Arg |