Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753483A= , CM000674.2:g.101753483A= | GRCh38 |
| NC_000012.11:g.102147261A= , CM000674.1:g.102147261A= | GRCh37 |
| NC_000012.10:g.100671392A= | NCBI36 |
| NG_021243.1:g.82385T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3491T= MANE Select | ENSP00000299314.7:p.Val1164= | |
| ENST00000299314.11:c.3491T= | ENSP00000299314.7:p.Val1164= | |
| ENST00000549738.5:c.389T= | ENSP00000450161.1:n.389T= | |
| NM_024312.4:c.3491T= | NP_077288.2:p.Val1164= | |
| XM_011538731.1:c.3410T= | XP_011537033.1:p.Val1137= | |
| XM_011538731.2:c.3410T= | XP_011537033.1:p.Val1137= | |
| XM_017019961.1:c.3275T= | XP_016875450.1:p.Val1092= | |
| XM_017019962.2:c.2264T= | XP_016875451.1:p.Val755= | |
| NM_024312.5:c.3491T= MANE Select | NP_077288.2:p.Val1164= |