Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719697C>G , CM000678.2:g.88719697C>G | GRCh38 |
| NC_000016.9:g.88786105C>G , CM000678.1:g.88786105C>G | GRCh37 |
| NC_000016.8:g.87313606C>G | NCBI36 |
| NG_042229.1:g.70524G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6348G>C MANE Select | ENSP00000301015.9:p.Val2116= | |
| ENST00000466823.3:c.374G>C | ||
| ENST00000301015.13:c.6348G>C | ENSP00000301015.9:p.Val2116= | |
| ENST00000419505.5:c.114G>C | ENSP00000406358.1:p.Val38= | |
| ENST00000466823.2:c.374G>C | ||
| ENST00000495568.7:n.589G>C | ||
| ENST00000497793.2:n.503G>C | ||
| NM_001142864.2:c.6348G>C | NP_001136336.2:p.Val2116= | |
| NM_001142864.3:c.6348G>C | NP_001136336.2:p.Val2116= | |
| NM_001142864.4:c.6348G>C MANE Select | NP_001136336.2:p.Val2116= |