Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24952808G>T , CM000670.2:g.24952808G>T | GRCh38 |
| NC_000008.10:g.24810321G>T , CM000670.1:g.24810321G>T | GRCh37 |
| NC_000008.9:g.24866238G>T | NCBI36 |
| NG_008492.1:g.8810C>A , LRG_259:g.8810C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006158.5:c.*2C>A MANE Select | NP_006149.2:n.*2C>A |
| ENST00000610854.2:c.*2C>A MANE Select | ENSP00000482169.2:n.*2C>A |
| NM_006158.4:c.*2C>A , LRG_259t1:c.*2C>A | NP_006149.2:n.*2C>A |
| ENST00000610854.1:c.*2C>A | ENSP00000482169.1:n.*2C>A |
| ENST00000619417.1:c.*499C>A | ENSP00000483690.1:n.*499C>A |