Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111621G>C , CM000670.2:g.118111621G>C | GRCh38 |
| NC_000008.10:g.119123860G>C , CM000670.1:g.119123860G>C | GRCh37 |
| NC_000008.9:g.119193041G>C | NCBI36 |
| NG_007455.2:g.5199C>G , LRG_493:g.5199C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-575C>G MANE Select | ENSP00000367446.3:n.-575C>G | |
| ENST00000378204.6:c.-575C>G | ENSP00000367446.2:n.-575C>G | |
| NM_000127.2:c.-575C>G , LRG_493t1:c.-575C>G | NP_000118.2:n.-575C>G | |
| NM_000127.3:c.-575C>G MANE Select | NP_000118.2:n.-575C>G |