Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442328G= , CM000666.2:g.177442328G= | GRCh38 |
| NC_000004.11:g.178363482G= , CM000666.1:g.178363482G= | GRCh37 |
| NC_000004.10:g.178600476G= | NCBI36 |
| NG_011845.2:g.5176C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.48C= MANE Select | ENSP00000264595.2:p.Leu16= | |
| ENST00000264595.6:c.48C= | ENSP00000264595.2:p.Leu16= | |
| ENST00000506853.5:n.82C= | ||
| ENST00000510955.5:n.82C= | ||
| ENST00000511231.1:n.82C= | ||
| NM_000027.3:c.48C= | NP_000018.2:p.Leu16= | |
| NM_001171988.1:c.48C= | NP_001165459.1:p.Leu16= | |
| NR_033655.1:n.176C= | ||
| XM_006714123.2:c.48C= | XP_006714186.1:p.Leu16= | |
| XR_001741155.2:n.142C= | ||
| NM_000027.4:c.48C= MANE Select | NP_000018.2:p.Leu16= | |
| NM_001171988.2:c.48C= | NP_001165459.1:p.Leu16= | |
| NR_033655.2:n.110C= |