Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99307783G= , CM000666.2:g.99307783G= | GRCh38 |
| NC_000004.11:g.100228940G= , CM000666.1:g.100228940G= | GRCh37 |
| NC_000004.10:g.100447963G= | NCBI36 |
| NG_011435.1:g.18633C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305046.13:c.*57C= MANE Select | ENSP00000306606.8:n.*57C= | |
| ENST00000305046.12:c.*57C= | ENSP00000306606.8:n.*57C= | |
| ENST00000506651.5:c.*57C= | ENSP00000425998.2:n.*57C= | |
| ENST00000515694.4:n.3280C= | ||
| ENST00000625860.2:c.*57C= | ENSP00000486614.1:n.*57C= | |
| NM_000668.5:c.*57C= | NP_000659.2:n.*57C= | |
| NM_001286650.1:c.*57C= | NP_001273579.1:n.*57C= | |
| NM_000668.6:c.*57C= MANE Select | NP_000659.2:n.*57C= | |
| NM_001286650.2:c.*57C= | NP_001273579.1:n.*57C= |