Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75009092C= , CM000676.2:g.75009092C= | GRCh38 |
| NC_000014.8:g.75475795C= , CM000676.1:g.75475795C= | GRCh37 |
| NC_000014.7:g.74545548C= | NCBI36 |
| NG_013333.1:g.11184C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.960C= MANE Select | ENSP00000266126.5:p.Leu320= | |
| ENST00000266126.9:c.960C= | ENSP00000266126.5:p.Leu320= | |
| ENST00000556668.1:n.540C= | ||
| NM_014239.3:c.960C= | NP_055054.1:p.Leu320= | |
| NM_014239.4:c.960C= MANE Select | NP_055054.1:p.Leu320= |