Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32068475C>G , CM000668.2:g.32068475C>G | GRCh38 |
| NC_000006.11:g.32036252C>G , CM000668.1:g.32036252C>G | GRCh37 |
| NC_000006.10:g.32144230C>G | NCBI36 |
| NG_008337.2:g.45900G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001365276.2:c.6135G>C MANE Select | NP_001352205.1:p.Leu2045= |
| ENST00000644971.2:c.6135G>C MANE Select | ENSP00000496448.1:p.Leu2045= |
| NM_001365276.1:c.6135G>C | NP_001352205.1:p.Leu2045= |
| NM_019105.6:c.6135G>C | NP_061978.6:p.Leu2045= |
| NM_019105.7:c.6135G>C | NP_061978.6:p.Leu2045= |
| NM_019105.8:c.6135G>C | NP_061978.6:p.Leu2045= |
| ENST00000375244.7:c.6135G>C | ENSP00000364393.3:p.Leu2045= |
| ENST00000613214.4:c.6396G>C | ENSP00000480067.1:n.6396G>C |
| ENST00000647633.1:c.6876G>C | ENSP00000497649.1:p.Leu2292= |