Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96204990C= , CM000676.2:g.96204990C= | GRCh38 |
| NC_000014.8:g.96671327C= , CM000676.1:g.96671327C= | GRCh37 |
| NC_000014.7:g.95741080C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554311.2:c.-40+31C= MANE Select | ENSP00000450482.1:n.-40+31C= | |
| ENST00000539359.1:c.-282+31C= | ENSP00000438376.1:n.-282+31C= | |
| ENST00000542454.2:c.-2808+31C= | ENSP00000439459.2:n.-2808+31C= | |
| ENST00000553811.1:c.-35+31C= | ENSP00000450984.1:n.-35+31C= | |
| ENST00000554311.1:c.-40+31C= | ENSP00000450482.1:n.-40+31C= | |
| NM_000623.3:c.-35+31C= | NP_000614.1:n.-35+31C= | |
| NM_000623.4:c.-35+31C= | NP_000614.1:n.-35+31C= | |
| NM_001379692.1:c.-40+31C= MANE Select | NP_001366621.1:n.-40+31C= |