Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117004C= , CM000669.2:g.19117004C= | GRCh38 |
| NC_000007.13:g.19156627C= , CM000669.1:g.19156627C= | GRCh37 |
| NC_000007.12:g.19123152C= | NCBI36 |
| NG_008114.1:g.5669G= | |
| NG_008114.2:g.5669G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.318G= MANE Select | ENSP00000242261.5:p.Leu106= | |
| ENST00000242261.5:c.318G= | ENSP00000242261.5:p.Leu106= | |
| ENST00000354571.5:c.115G= | ||
| NM_000474.3:c.318G= | NP_000465.1:p.Leu106= | |
| XM_011515496.1:c.318G= | XP_011513798.1:p.Leu106= | |
| NR_149001.1:n.669G= | ||
| NM_000474.4:c.318G= MANE Select | NP_000465.1:p.Leu106= | |
| NR_149001.2:n.633G= |