Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139874012C>A , CM000666.2:g.139874012C>A | GRCh38 |
| NC_000004.11:g.140795166C>A , CM000666.1:g.140795166C>A | GRCh37 |
| NC_000004.10:g.141014616C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502696.1:c.111-143345G>T | ||
| ENST00000509479.6:c.2079+15345G>T MANE Select | ENSP00000421180.1:n.2079+15345G>T | |
| NM_018717.4:c.2067+15345G>T | NP_061187.2:n.2067+15345G>T | |
| NM_018717.5:c.2079+15345G>T MANE Select | NP_061187.3:n.2079+15345G>T |