Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33041394C>T , CM000681.2:g.33041394C>T | GRCh38 |
| NC_000019.9:g.33532300C>T , CM000681.1:g.33532300C>T | GRCh37 |
| NC_000019.8:g.38224140C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033103.5:c.185+2855G>A MANE Select | NP_149094.3:n.185+2855G>A |
| ENST00000254260.8:c.185+2855G>A MANE Select | ENSP00000254260.2:n.185+2855G>A |
| NM_033103.4:c.185+2855G>A | NP_149094.3:n.185+2855G>A |
| ENST00000254260.7:c.185+2855G>A | ENSP00000254260.2:n.185+2855G>A |
| ENST00000588388.5:c.185+2855G>A | ENSP00000465898.1:n.185+2855G>A |