Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524766G= , CM000680.2:g.31524766G= | GRCh38 |
| NC_000018.9:g.29104729G= , CM000680.1:g.29104729G= | GRCh37 |
| NC_000018.8:g.27358727G= | NCBI36 |
| NG_007072.3:g.31525G= , LRG_397:g.31525G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682087.2:n.723G= | ||
| ENST00000683614.2:n.723G= | ||
| ENST00000682087.1:c.723G= | ||
| ENST00000683614.1:c.723G= | ||
| ENST00000261590.13:c.892G= MANE Select | ENSP00000261590.8:p.Ala298= | |
| ENST00000261590.12:c.892G= | ENSP00000261590.8:p.Ala298= | |
| NM_001943.3:c.892G= , LRG_397t1:c.892G= | NP_001934.2:p.Ala298= | |
| NM_001943.4:c.892G= | NP_001934.2:p.Ala298= | |
| XM_024451095.1:c.358G= | XP_024306863.1:p.Ala120= | |
| NM_001943.5:c.892G= MANE Select | NP_001934.2:p.Ala298= |