Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189575184A= , CM000664.2:g.189575184A= | GRCh38 |
| NC_000002.11:g.190439910A= , CM000664.1:g.190439910A= | GRCh37 |
| NC_000002.10:g.190148155A= | NCBI36 |
| NG_009027.1:g.10628T= , LRG_837:g.10628T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.248T= MANE Select | ENSP00000261024.3:p.Val83= | |
| ENST00000261024.6:c.248T= | ENSP00000261024.2:p.Val83= | |
| ENST00000418714.1:n.689T= | ||
| ENST00000427241.5:c.248T= | ENSP00000390005.1:p.Val83= | |
| ENST00000479598.5:n.529T= | ||
| NM_014585.5:c.248T= , LRG_837t1:c.248T= | NP_055400.1:p.Val83= | |
| XM_005246505.1:c.128T= | XP_005246562.1:p.Val43= | |
| XM_005246505.2:c.128T= | XP_005246562.1:p.Val43= | |
| XM_017003938.2:c.128T= | XP_016859427.1:p.Val43= | |
| NM_014585.6:c.248T= MANE Select | NP_055400.1:p.Val83= |