Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23117816A>C , CM000676.2:g.23117816A>C | GRCh38 |
| NC_000014.8:g.23587025A>C , CM000676.1:g.23587025A>C | GRCh37 |
| NC_000014.7:g.22656865A>C | NCBI36 |
| NG_009617.1:g.6450T>G , LRG_45:g.6450T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001805.4:c.517T>G MANE Select | NP_001796.2:p.Leu173Val |
| ENST00000206513.6:c.517T>G MANE Select | ENSP00000206513.5:p.Leu173Val |
| NM_001805.3:c.517T>G | NP_001796.2:p.Leu173Val |
| ENST00000206513.5:c.517T>G | ENSP00000206513.5:p.Leu173Val |
| ENST00000696121.1:n.486T>G | |
| ENST00000696122.1:n.263T>G | |
| XM_011536359.1:c.472T>G | XP_011534661.1:p.Leu158Val |