Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524865G= , CM000680.2:g.31524865G= | GRCh38 |
| NC_000018.9:g.29104828G= , CM000680.1:g.29104828G= | GRCh37 |
| NC_000018.8:g.27358826G= | NCBI36 |
| NG_007072.3:g.31624G= , LRG_397:g.31624G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.991G= MANE Select | NP_001934.2:p.Glu331= |
| ENST00000261590.13:c.991G= MANE Select | ENSP00000261590.8:p.Glu331= |
| NM_001943.3:c.991G= , LRG_397t1:c.991G= | NP_001934.2:p.Glu331= |
| NM_001943.4:c.991G= | NP_001934.2:p.Glu331= |
| ENST00000261590.12:c.991G= | ENSP00000261590.8:p.Glu331= |
| ENST00000682087.1:c.822G= | |
| ENST00000682087.2:n.822G= | |
| ENST00000683614.1:c.822G= | |
| ENST00000683614.2:n.822G= | |
| XM_024451095.1:c.457G= | XP_024306863.1:p.Glu153= |