Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.104952962A>C , CM000668.2:g.104952962A>C | GRCh38 |
| NC_000006.11:g.105400837A>C , CM000668.1:g.105400837A>C | GRCh37 |
| NC_000006.10:g.105507530A>C | NCBI36 |
| NG_032815.1:g.915A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635857.1:c.67+2453A>C | ENSP00000489735.1:n.67+2453A>C | |
| ENST00000637759.1:c.34+2453A>C | ENSP00000490468.1:n.34+2453A>C | |
| XM_006715477.2:c.67+2453A>C | XP_006715540.2:n.67+2453A>C | |
| XM_011535818.1:c.34+2453A>C | XP_011534120.1:n.34+2453A>C | |
| XM_011535818.3:c.34+2453A>C | XP_011534120.1:n.34+2453A>C |