Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24954184T>C , CM000670.2:g.24954184T>C | GRCh38 |
| NC_000008.10:g.24811698T>C , CM000670.1:g.24811698T>C | GRCh37 |
| NC_000008.9:g.24867615T>C | NCBI36 |
| NG_008492.1:g.7434A>G , LRG_259:g.7434A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006158.5:c.1166A>G MANE Select | NP_006149.2:p.Tyr389Cys |
| ENST00000610854.2:c.1166A>G MANE Select | ENSP00000482169.2:p.Tyr389Cys |
| NM_006158.4:c.1166A>G , LRG_259t1:c.1166A>G | NP_006149.2:p.Tyr389Cys |
| ENST00000610854.1:c.1166A>G | ENSP00000482169.1:p.Tyr389Cys |
| ENST00000619417.1:c.*31A>G | ENSP00000483690.1:n.*31A>G |