Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74751853G= , CM000677.2:g.74751853G= | GRCh38 |
| NC_000015.9:g.75044194G= , CM000677.1:g.75044194G= | GRCh37 |
| NC_000015.8:g.72831247G= | NCBI36 |
| NG_008431.1:g.34312G= | |
| NG_008431.2:g.34312G= | |
| NG_061543.1:g.8009G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1041G= MANE Select | ENSP00000342007.4:p.Leu347= | |
| ENST00000343932.4:c.1041G= | ENSP00000342007.4:p.Leu347= | |
| NM_000761.4:c.1041G= | NP_000752.2:p.Leu347= | |
| NM_000761.5:c.1041G= MANE Select | NP_000752.2:p.Leu347= |