Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150848436C= , CM000667.2:g.150848436C= | GRCh38 |
| NC_000005.9:g.150227998C= , CM000667.1:g.150227998C= | GRCh37 |
| NC_000005.8:g.150208191C= | NCBI36 |
| NG_027809.1:g.6914C= | |
| NG_027809.2:g.6914C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001145805.2:c.313C= MANE Select | NP_001139277.1:p.Leu105= |
| ENST00000522154.2:c.313C= MANE Select | ENSP00000428220.1:p.Leu105= |
| NM_001145805.1:c.313C= | NP_001139277.1:p.Leu105= |
| NM_001346557.1:c.313C= | NP_001333486.1:p.Leu105= |
| NM_001346557.2:c.313C= | NP_001333486.1:p.Leu105= |
| NR_170598.1:n.1428C= | |
| ENST00000522154.1:c.313C= | ENSP00000428220.1:p.Leu105= |
| XM_011537641.1:c.313C= | XP_011535943.1:p.Leu105= |