Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48408569G>T , CM000677.2:g.48408569G>T | GRCh38 |
| NC_000015.9:g.48700766G>T , CM000677.1:g.48700766G>T | GRCh37 |
| NC_000015.8:g.46488058G>T | NCBI36 |
| NG_008805.2:g.242220C>A , LRG_778:g.242220C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.*2421C>A MANE Select | NP_000129.3:n.*2421C>A |
| ENST00000316623.10:c.*2421C>A MANE Select | ENSP00000325527.5:n.*2421C>A |
| NM_000138.4:c.*2421C>A , LRG_778t1:c.*2421C>A | NP_000129.3:n.*2421C>A |
| ENST00000316623.9:c.*2421C>A | ENSP00000325527.5:n.*2421C>A |
| ENST00000682170.1:n.5218C>A | |
| ENST00000682767.1:n.4334C>A |