Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671092T= , CM000670.2:g.86671092T= | GRCh38 |
| NC_000008.10:g.87683320T= , CM000670.1:g.87683320T= | GRCh37 |
| NC_000008.9:g.87752436T= | NCBI36 |
| NG_016980.1:g.77584A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.345A= MANE Select | ENSP00000316605.5:p.Gln115= | |
| ENST00000680314.1:n.106A= | ||
| ENST00000681746.1:c.345A= | ENSP00000505959.1:p.Gln115= | |
| ENST00000320005.5:c.345A= | ENSP00000316605.5:p.Gln115= | |
| NM_019098.4:c.345A= | NP_061971.3:p.Gln115= | |
| XM_011517138.1:c.-70A= | XP_011515440.1:n.-70A= | |
| XM_011517138.2:c.-70A= | XP_011515440.1:n.-70A= | |
| NM_019098.5:c.345A= MANE Select | NP_061971.3:p.Gln115= |