Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86667962A>G , CM000670.2:g.86667962A>G | GRCh38 |
| NC_000008.10:g.87680190A>G , CM000670.1:g.87680190A>G | GRCh37 |
| NC_000008.9:g.87749306A>G | NCBI36 |
| NG_016980.1:g.80714T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.643+57T>C MANE Select | ENSP00000316605.5:n.643+57T>C | |
| ENST00000681746.1:c.643+57T>C | ENSP00000505959.1:n.643+57T>C | |
| ENST00000320005.5:c.643+57T>C | ENSP00000316605.5:n.643+57T>C | |
| NM_019098.4:c.643+57T>C | NP_061971.3:n.643+57T>C | |
| XM_011517138.1:c.229+57T>C | XP_011515440.1:n.229+57T>C | |
| XM_011517138.2:c.229+57T>C | XP_011515440.1:n.229+57T>C | |
| NM_019098.5:c.643+57T>C MANE Select | NP_061971.3:n.643+57T>C |