Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816329G>T , CM000681.2:g.4816329G>T | GRCh38 |
| NC_000019.9:g.4816341G>T , CM000681.1:g.4816341G>T | GRCh37 |
| NC_000019.8:g.4767341G>T | NCBI36 |
| NG_031998.1:g.20414C>A , LRG_358:g.20414C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.2049C>A MANE Select | ENSP00000248244.4:p.His683Gln | |
| ENST00000248244.5:c.2049C>A | ENSP00000248244.4:p.His683Gln | |
| ENST00000621756.1:c.1551C>A | ENSP00000479467.1:p.His517Gln | |
| NM_182919.3:c.2049C>A , LRG_358t1:c.2049C>A | NP_891549.1:p.His683Gln | |
| NM_001385678.1:c.2007C>A | NP_001372607.1:p.His669Gln | |
| NM_001385679.1:c.1914C>A | NP_001372608.1:p.His638Gln | |
| NM_001385680.1:c.1407C>A | NP_001372609.1:p.His469Gln | |
| NM_182919.4:c.2049C>A MANE Select | NP_891549.1:p.His683Gln |