Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130384626T>C , CM000669.2:g.130384626T>C | GRCh38 |
| NC_000007.13:g.130024467T>C , CM000669.1:g.130024467T>C | GRCh37 |
| NC_000007.12:g.129811703T>C | NCBI36 |
| NG_042276.1:g.9256T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.787T>C MANE Select | NP_001859.1:p.Leu263= |
| ENST00000011292.8:c.787T>C MANE Select | ENSP00000011292.3:p.Leu263= |
| NM_001868.3:c.787T>C | NP_001859.1:p.Leu263= |
| ENST00000011292.7:c.787T>C | ENSP00000011292.3:p.Leu263= |
| ENST00000470838.1:n.187T>C | |
| ENST00000476062.5:c.523T>C | ENSP00000419408.1:p.Leu175= |
| ENST00000479106.1:n.843T>C | |
| ENST00000484324.1:c.523T>C | ENSP00000419497.1:p.Leu175= |
| ENST00000604896.5:c.343T>C | ENSP00000475021.1:p.Leu115= |