Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47339660A= , CM000673.2:g.47339660A= | GRCh38 |
| NC_000011.9:g.47361211A= , CM000673.1:g.47361211A= | GRCh37 |
| NC_000011.8:g.47317787A= | NCBI36 |
| NG_007667.1:g.18043T= , LRG_386:g.18043T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000256.3:c.2058T= , LRG_386t1:c.2058T= MANE Select | NP_000247.2:p.Ala686= |
| ENST00000545968.6:c.2058T= MANE Select | ENSP00000442795.1:p.Ala686= |
| ENST00000256993.8:c.2058T= | ENSP00000256993.5:p.Ala686= |
| ENST00000399249.6:c.2058T= | ENSP00000382193.2:p.Ala686= |
| ENST00000544791.1:c.2058T= | ENSP00000444259.1:p.Ala686= |
| ENST00000545968.5:c.2058T= | ENSP00000442795.1:p.Ala686= |
| XM_011520117.1:c.2040T= | XP_011518419.1:p.Ala680= |
| XM_011520118.1:c.2058T= | XP_011518420.1:p.Ala686= |