Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31826792C>T , CM000682.2:g.31826792C>T | GRCh38 |
| NC_000020.10:g.30414595C>T , CM000682.1:g.30414595C>T | GRCh37 |
| NC_000020.9:g.29878256C>T | NCBI36 |
| NG_012847.1:g.12418C>T , LRG_392:g.12418C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.1083-5C>T MANE Select | ENSP00000365152.4:n.1083-5C>T | |
| ENST00000375985.4:c.1083-5C>T | ENSP00000365152.4:n.1083-5C>T | |
| ENST00000375994.6:c.1083-5C>T | ENSP00000365162.2:n.1083-5C>T | |
| ENST00000468730.1:n.16C>T | ||
| NM_033118.3:c.1083-5C>T , LRG_392t1:c.1083-5C>T | NP_149109.1:n.1083-5C>T | |
| XR_244155.1:n.1729C>T | ||
| NM_033118.4:c.1083-5C>T MANE Select | NP_149109.1:n.1083-5C>T |