Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940439A= , CM000678.2:g.67940439A= | GRCh38 |
| NC_000016.9:g.67974342A= , CM000678.1:g.67974342A= | GRCh37 |
| NC_000016.8:g.66531843A= | NCBI36 |
| NG_009778.1:g.8674T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.788T= MANE Select | ENSP00000264005.5:p.Leu263= | |
| ENST00000264005.9:c.788T= | ENSP00000264005.5:p.Leu263= | |
| ENST00000570369.5:c.156-365T= | ||
| ENST00000570980.1:c.572T= | ENSP00000464651.1:p.Leu191= | |
| ENST00000573538.5:c.526T= | ENSP00000463220.1:n.526T= | |
| NM_000229.1:c.788T= | NP_000220.1:p.Leu263= | |
| NM_000229.2:c.788T= MANE Select | NP_000220.1:p.Leu263= |