Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922681G= , CM000676.2:g.102922681G= | GRCh38 |
| NC_000014.8:g.103389018G= , CM000676.1:g.103389018G= | GRCh37 |
| NC_000014.7:g.102458771G= | NCBI36 |
| NG_008276.2:g.5026G= , LRG_642:g.5026G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.-8G= MANE Select | ENSP00000299155.6:n.-8G= | |
| ENST00000299155.9:c.-8G= | ENSP00000299155.5:n.-8G= | |
| NM_030943.3:c.-8G= , LRG_642t1:c.-8G= | NP_112205.2:n.-8G= | |
| XM_011537202.1:c.-189G= | XP_011535504.1:n.-189G= | |
| XM_011537202.3:c.-189G= | XP_011535504.1:n.-189G= | |
| XM_024449714.1:c.89G= | XP_024305482.1:p.Arg30= | |
| NM_030943.4:c.-8G= MANE Select | NP_112205.2:n.-8G= |