Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139874160C>T , CM000666.2:g.139874160C>T | GRCh38 |
| NC_000004.11:g.140795314C>T , CM000666.1:g.140795314C>T | GRCh37 |
| NC_000004.10:g.141014764C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502696.1:c.111-143493G>A | ||
| ENST00000509479.6:c.2079+15197G>A MANE Select | ENSP00000421180.1:n.2079+15197G>A | |
| NM_018717.4:c.2067+15197G>A | NP_061187.2:n.2067+15197G>A | |
| NM_018717.5:c.2079+15197G>A MANE Select | NP_061187.3:n.2079+15197G>A |