Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96242330T= , CM000676.2:g.96242330T= | GRCh38 |
| NC_000014.8:g.96708667T= , CM000676.1:g.96708667T= | GRCh37 |
| NC_000014.7:g.95778420T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001379692.1:c.*826T= MANE Select | NP_001366621.1:n.*826T= |
| ENST00000554311.2:c.*826T= MANE Select | ENSP00000450482.1:n.*826T= |
| NM_000623.3:c.*826T= | NP_000614.1:n.*826T= |
| NM_000623.4:c.*826T= | NP_000614.1:n.*826T= |
| ENST00000542454.2:c.*826T= | ENSP00000439459.2:n.*826T= |
| ENST00000553811.1:c.74+5149T= | ENSP00000450984.1:n.74+5149T= |
| ENST00000554311.1:c.*826T= | ENSP00000450482.1:n.*826T= |
| ENST00000555847.1:n.190T= |