Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996110C>A , CM000663.2:g.196996110C>A | GRCh38 |
| NC_000001.10:g.196965240C>A , CM000663.1:g.196965240C>A | GRCh37 |
| NC_000001.9:g.195231863C>A | NCBI36 |
| NG_016365.1:g.23574C>A , LRG_227:g.23574C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.624C>A | ENSP00000514393.1:p.Val208= | |
| ENST00000699467.1:n.948C>A | ||
| ENST00000699468.1:c.-24-4C>A | ENSP00000514394.1:n.-24-4C>A | |
| ENST00000256785.5:c.879C>A MANE Select | ENSP00000256785.4:p.Val293= | |
| ENST00000256785.4:c.879C>A | ENSP00000256785.4:p.Val293= | |
| NM_030787.3:c.879C>A , LRG_227t1:c.879C>A | NP_110414.1:p.Val293= | |
| XM_011510020.1:c.888C>A | XP_011508322.1:p.Val296= | |
| XM_011510020.2:c.888C>A | XP_011508322.1:p.Val296= | |
| NM_030787.4:c.879C>A MANE Select | NP_110414.1:p.Val293= |