Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77092372G>T , CM000663.2:g.77092372G>T | GRCh38 |
| NC_000001.10:g.77558057G>T , CM000663.1:g.77558057G>T | GRCh37 |
| NC_000001.9:g.77330645G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370812.8:c.*2C>A MANE Select | ENSP00000359848.3:n.*2C>A | |
| ENST00000370812.7:c.*2C>A | ENSP00000359848.3:n.*2C>A | |
| ENST00000445065.5:c.*2C>A | ENSP00000388854.1:n.*2C>A | |
| ENST00000487906.5:c.763C>A | ENSP00000474518.1:n.763C>A | |
| NM_005482.2:c.*2C>A | NP_005473.1:n.*2C>A | |
| NM_005482.3:c.*2C>A MANE Select | NP_005473.1:n.*2C>A |