Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196995726G= , CM000663.2:g.196995726G= | GRCh38 |
| NC_000001.10:g.196964856G= , CM000663.1:g.196964856G= | GRCh37 |
| NC_000001.9:g.195231479G= | NCBI36 |
| NG_016365.1:g.23190G= , LRG_227:g.23190G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.362G= | ENSP00000514393.1:p.Arg121= | |
| ENST00000699467.1:n.686G= | ||
| ENST00000699468.1:c.-24-388G= | ENSP00000514394.1:n.-24-388G= | |
| ENST00000256785.5:c.617G= MANE Select | ENSP00000256785.4:p.Arg206= | |
| ENST00000256785.4:c.617G= | ENSP00000256785.4:p.Arg206= | |
| NM_030787.3:c.617G= , LRG_227t1:c.617G= | NP_110414.1:p.Arg206= | |
| XM_011510020.1:c.626G= | XP_011508322.1:p.Arg209= | |
| XM_011510020.2:c.626G= | XP_011508322.1:p.Arg209= | |
| NM_030787.4:c.617G= MANE Select | NP_110414.1:p.Arg206= |