Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111515C>T , CM000670.2:g.118111515C>T | GRCh38 |
| NC_000008.10:g.119123754C>T , CM000670.1:g.119123754C>T | GRCh37 |
| NC_000008.9:g.119192935C>T | NCBI36 |
| NG_007455.2:g.5305G>A , LRG_493:g.5305G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-469G>A MANE Select | ENSP00000367446.3:n.-469G>A | |
| ENST00000378204.6:c.-469G>A | ENSP00000367446.2:n.-469G>A | |
| NM_000127.2:c.-469G>A , LRG_493t1:c.-469G>A | NP_000118.2:n.-469G>A | |
| NM_000127.3:c.-469G>A MANE Select | NP_000118.2:n.-469G>A |