Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39215677C>T , CM000668.2:g.39215677C>T | GRCh38 |
| NC_000006.11:g.39183453C>T , CM000668.1:g.39183453C>T | GRCh37 |
| NC_000006.10:g.39291431C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359534.4:c.186+13249G>A MANE Select | ENSP00000352527.3:n.186+13249G>A | |
| ENST00000359534.3:c.186+13249G>A | ENSP00000352527.3:n.186+13249G>A | |
| NM_003740.3:c.186+13249G>A | NP_003731.1:n.186+13249G>A | |
| XM_005249456.1:c.186+13249G>A | XP_005249513.1:n.186+13249G>A | |
| NM_003740.4:c.186+13249G>A MANE Select | NP_003731.1:n.186+13249G>A |