Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28844962G= , CM000678.2:g.28844962G= | GRCh38 |
| NC_000016.9:g.28856283G= , CM000678.1:g.28856283G= | GRCh37 |
| NC_000016.8:g.28763784G= | NCBI36 |
| NG_008964.1:g.6447C= | |
| NG_029706.2:g.3363G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.508C= MANE Select | ENSP00000322439.3:p.Leu170= | |
| ENST00000313511.7:c.508C= | ENSP00000322439.3:p.Leu170= | |
| ENST00000561644.1:n.46C= | ||
| ENST00000565012.1:c.*35C= | ENSP00000455007.1:n.*35C= | |
| NM_003321.4:c.508C= | NP_003312.3:p.Leu170= | |
| XM_011545928.1:c.508C= | XP_011544230.1:p.Leu170= | |
| NM_001365360.1:c.508C= | NP_001352289.1:p.Leu170= | |
| NM_003321.5:c.508C= MANE Select | NP_003312.3:p.Leu170= | |
| NM_001365360.2:c.508C= | NP_001352289.1:p.Leu170= |