Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120738841C= , CM000674.2:g.120738841C= | GRCh38 |
| NC_000012.11:g.121176644C= , CM000674.1:g.121176644C= | GRCh37 |
| NC_000012.10:g.119661027C= | NCBI36 |
| NG_007991.1:g.18074C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.955C= MANE Select | ENSP00000242592.4:p.Leu319= | |
| ENST00000242592.8:c.955C= | ENSP00000242592.4:p.Leu319= | |
| ENST00000411593.2:c.943C= | ENSP00000401045.2:p.Leu315= | |
| NM_000017.3:c.955C= | NP_000008.1:p.Leu319= | |
| NM_001302554.1:c.943C= | NP_001289483.1:p.Leu315= | |
| NM_000017.4:c.955C= MANE Select | NP_000008.1:p.Leu319= | |
| NM_001302554.2:c.943C= | NP_001289483.1:p.Leu315= |