Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719682C>A , CM000678.2:g.88719682C>A | GRCh38 |
| NC_000016.9:g.88786090C>A , CM000678.1:g.88786090C>A | GRCh37 |
| NC_000016.8:g.87313591C>A | NCBI36 |
| NG_042229.1:g.70539G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6363G>T MANE Select | ENSP00000301015.9:p.Val2121= | |
| ENST00000466823.3:c.389G>T | ||
| ENST00000301015.13:c.6363G>T | ENSP00000301015.9:p.Val2121= | |
| ENST00000419505.5:c.129G>T | ENSP00000406358.1:p.Val43= | |
| ENST00000466823.2:c.389G>T | ||
| ENST00000495568.7:n.604G>T | ||
| ENST00000497793.2:n.518G>T | ||
| NM_001142864.2:c.6363G>T | NP_001136336.2:p.Val2121= | |
| NM_001142864.3:c.6363G>T | NP_001136336.2:p.Val2121= | |
| NM_001142864.4:c.6363G>T MANE Select | NP_001136336.2:p.Val2121= |