Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966448A= , CM000685.2:g.154966448A= | GRCh38 |
| NC_000023.10:g.154194723A= , CM000685.1:g.154194723A= | GRCh37 |
| NC_000023.9:g.153847917A= | NCBI36 |
| NG_011403.1:g.61276T= | |
| NG_011403.2:g.61276T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1249T= MANE Select | ENSP00000353393.4:p.Leu417= | |
| ENST00000647125.1:c.*1125T= | ENSP00000496062.1:n.*1125T= | |
| ENST00000360256.8:c.1249T= | ENSP00000353393.4:p.Leu417= | |
| ENST00000483822.2:n.69T= | ||
| NM_000132.3:c.1249T= | NP_000123.1:p.Leu417= | |
| XM_011531126.1:c.1144T= | XP_011529428.1:p.Leu382= | |
| NM_000132.4:c.1249T= MANE Select | NP_000123.1:p.Leu417= |