Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816785G>A , CM000681.2:g.4816785G>A | GRCh38 |
| NC_000019.9:g.4816797G>A , CM000681.1:g.4816797G>A | GRCh37 |
| NC_000019.8:g.4767797G>A | NCBI36 |
| NG_031998.1:g.19958C>T , LRG_358:g.19958C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1593C>T MANE Select | ENSP00000248244.4:p.His531= | |
| ENST00000248244.5:c.1593C>T | ENSP00000248244.4:p.His531= | |
| ENST00000621756.1:c.1176C>T | ENSP00000479467.1:p.His392= | |
| NM_182919.3:c.1593C>T , LRG_358t1:c.1593C>T | NP_891549.1:p.His531= | |
| NM_001385678.1:c.1551C>T | NP_001372607.1:p.His517= | |
| NM_001385679.1:c.1458C>T | NP_001372608.1:p.His486= | |
| NM_001385680.1:c.951C>T | NP_001372609.1:p.His317= | |
| NM_182919.4:c.1593C>T MANE Select | NP_891549.1:p.His531= |