Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43162995C>A , CM000684.2:g.43162995C>A | GRCh38 |
| NC_000022.10:g.43559001C>A , CM000684.1:g.43559001C>A | GRCh37 |
| NC_000022.9:g.41888945C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337554.8:c.*4C>A MANE Select | ENSP00000338004.3:n.*4C>A | |
| ENST00000329563.8:c.*4C>A | ENSP00000328973.4:n.*4C>A | |
| ENST00000337554.7:c.*4C>A | ENSP00000338004.3:n.*4C>A | |
| ENST00000396265.4:c.*4C>A | ENSP00000379563.4:n.*4C>A | |
| ENST00000583777.5:c.*4C>A | ENSP00000463495.1:n.*4C>A | |
| NM_000714.5:c.*4C>A | NP_000705.2:n.*4C>A | |
| NM_001256530.1:c.*4C>A | NP_001243459.1:n.*4C>A | |
| NM_001256531.1:c.*4C>A | NP_001243460.1:n.*4C>A | |
| NR_046308.1:n.423C>A | ||
| NM_000714.6:c.*4C>A MANE Select | NP_000705.2:n.*4C>A | |
| NR_046308.2:n.378C>A |