Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48408946G= , CM000677.2:g.48408946G= | GRCh38 |
| NC_000015.9:g.48701143G= , CM000677.1:g.48701143G= | GRCh37 |
| NC_000015.8:g.46488435G= | NCBI36 |
| NG_008805.2:g.241843C= , LRG_778:g.241843C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682170.1:n.4841C= | ||
| ENST00000682767.1:n.3957C= | ||
| ENST00000316623.10:c.*2044C= MANE Select | ENSP00000325527.5:n.*2044C= | |
| ENST00000316623.9:c.*2044C= | ENSP00000325527.5:n.*2044C= | |
| NM_000138.4:c.*2044C= , LRG_778t1:c.*2044C= | NP_000129.3:n.*2044C= | |
| NM_000138.5:c.*2044C= MANE Select | NP_000129.3:n.*2044C= |