Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75009149G>T , CM000676.2:g.75009149G>T | GRCh38 |
| NC_000014.8:g.75475852G>T , CM000676.1:g.75475852G>T | GRCh37 |
| NC_000014.7:g.74545605G>T | NCBI36 |
| NG_013333.1:g.11241G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.1017G>T MANE Select | ENSP00000266126.5:p.Leu339= | |
| ENST00000266126.9:c.1017G>T | ENSP00000266126.5:p.Leu339= | |
| ENST00000556668.1:n.597G>T | ||
| NM_014239.3:c.1017G>T | NP_055054.1:p.Leu339= | |
| NM_014239.4:c.1017G>T MANE Select | NP_055054.1:p.Leu339= |