Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32085921G>A , CM000668.2:g.32085921G>A | GRCh38 |
| NC_000006.11:g.32053698G>A , CM000668.1:g.32053698G>A | GRCh37 |
| NC_000006.10:g.32161676G>A | NCBI36 |
| NG_008337.2:g.28454C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001365276.2:c.2977C>T MANE Select | NP_001352205.1:p.Leu993= |
| ENST00000644971.2:c.2977C>T MANE Select | ENSP00000496448.1:p.Leu993= |
| NM_001365276.1:c.2977C>T | NP_001352205.1:p.Leu993= |
| NM_019105.6:c.2977C>T | NP_061978.6:p.Leu993= |
| NM_019105.7:c.2977C>T | NP_061978.6:p.Leu993= |
| NM_019105.8:c.2977C>T | NP_061978.6:p.Leu993= |
| ENST00000375244.7:c.2977C>T | ENSP00000364393.3:p.Leu993= |
| ENST00000613214.4:c.3238C>T | ENSP00000480067.1:p.Leu1080= |
| ENST00000647633.1:c.3718C>T | ENSP00000497649.1:p.Leu1240= |