Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996035A= , CM000663.2:g.196996035A= | GRCh38 |
| NC_000001.10:g.196965165A= , CM000663.1:g.196965165A= | GRCh37 |
| NC_000001.9:g.195231788A= | NCBI36 |
| NG_016365.1:g.23499A= , LRG_227:g.23499A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.549A= | ENSP00000514393.1:p.Thr183= | |
| ENST00000699467.1:n.873A= | ||
| ENST00000699468.1:c.-24-79A= | ENSP00000514394.1:n.-24-79A= | |
| ENST00000256785.5:c.804A= MANE Select | ENSP00000256785.4:p.Thr268= | |
| ENST00000256785.4:c.804A= | ENSP00000256785.4:p.Thr268= | |
| NM_030787.3:c.804A= , LRG_227t1:c.804A= | NP_110414.1:p.Thr268= | |
| XM_011510020.1:c.813A= | XP_011508322.1:p.Thr271= | |
| XM_011510020.2:c.813A= | XP_011508322.1:p.Thr271= | |
| NM_030787.4:c.804A= MANE Select | NP_110414.1:p.Thr268= |