Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978193C= , CM000667.2:g.149978193C= | GRCh38 |
| NC_000005.9:g.149357756C= , CM000667.1:g.149357756C= | GRCh37 |
| NC_000005.8:g.149337949C= | NCBI36 |
| NG_007147.2:g.19311C= , LRG_684:g.19311C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.541C= MANE Select | NP_000103.2:p.Gln181= |
| ENST00000286298.5:c.541C= MANE Select | ENSP00000286298.4:p.Gln181= |
| NM_000112.3:c.541C= , LRG_684t1:c.541C= | NP_000103.2:p.Gln181= |
| ENST00000286298.4:c.541C= | ENSP00000286298.4:p.Gln181= |
| ENST00000503336.1:c.214C= | ENSP00000426053.1:p.Gln72= |
| ENST00000690410.1:n.773C= | |
| XM_017009191.2:c.541C= | XP_016864680.1:p.Gln181= |