Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977962C= , CM000667.2:g.149977962C= | GRCh38 |
| NC_000005.9:g.149357525C= , CM000667.1:g.149357525C= | GRCh37 |
| NC_000005.8:g.149337718C= | NCBI36 |
| NG_007147.2:g.19080C= , LRG_684:g.19080C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.542C= | ||
| ENST00000286298.5:c.310C= MANE Select | ENSP00000286298.4:p.Leu104= | |
| ENST00000286298.4:c.310C= | ENSP00000286298.4:p.Leu104= | |
| NM_000112.3:c.310C= , LRG_684t1:c.310C= | NP_000103.2:p.Leu104= | |
| XM_017009191.2:c.310C= | XP_016864680.1:p.Leu104= | |
| NM_000112.4:c.310C= MANE Select | NP_000103.2:p.Leu104= |