Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966667T= , CM000685.2:g.154966667T= | GRCh38 |
| NC_000023.10:g.154194942T= , CM000685.1:g.154194942T= | GRCh37 |
| NC_000023.9:g.153848136T= | NCBI36 |
| NG_011403.1:g.61057A= | |
| NG_011403.2:g.61057A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1030A= MANE Select | ENSP00000353393.4:p.Lys344= | |
| ENST00000647125.1:c.*906A= | ENSP00000496062.1:n.*906A= | |
| ENST00000360256.8:c.1030A= | ENSP00000353393.4:p.Lys344= | |
| NM_000132.3:c.1030A= | NP_000123.1:p.Lys344= | |
| XM_011531126.1:c.925A= | XP_011529428.1:p.Lys309= | |
| NM_000132.4:c.1030A= MANE Select | NP_000123.1:p.Lys344= |