Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34762509C>A , CM000668.2:g.34762509C>A | GRCh38 |
| NC_000006.11:g.34730286C>A , CM000668.1:g.34730286C>A | GRCh37 |
| NC_000006.10:g.34838264C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244520.10:c.52-86C>A MANE Select | ENSP00000244520.5:n.52-86C>A | |
| ENST00000244520.9:c.52-86C>A | ENSP00000244520.5:n.52-86C>A | |
| ENST00000374017.3:c.115-86C>A | ENSP00000363129.3:n.115-86C>A | |
| ENST00000374018.5:c.-72-86C>A | ENSP00000363130.1:n.-72-86C>A | |
| ENST00000474635.1:n.44-86C>A | ||
| NM_003093.2:c.52-86C>A | NP_003084.1:n.52-86C>A | |
| NR_029472.1:n.459-86C>A | ||
| NM_003093.3:c.52-86C>A MANE Select | NP_003084.1:n.52-86C>A | |
| NR_029472.2:n.48-86C>A |