Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68250142A>T , CM000674.2:g.68250142A>T | GRCh38 |
| NC_000012.11:g.68643922A>T , CM000674.1:g.68643922A>T | GRCh37 |
| NC_000012.10:g.66930189A>T | NCBI36 |
| NG_060763.1:g.8463T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328087.6:c.463-1266T>A | ENSP00000329384.4:n.463-1266T>A | |
| ENST00000538666.6:c.463-1266T>A MANE Select | ENSP00000442424.1:n.463-1266T>A | |
| ENST00000328087.5:c.463-1266T>A | ENSP00000329384.4:n.463-1266T>A | |
| ENST00000538666.5:c.463-1266T>A | ENSP00000442424.1:n.463-1266T>A | |
| NM_020525.4:c.463-1266T>A | NP_065386.1:n.463-1266T>A | |
| XR_945055.1:n.265-14516A>T | ||
| NM_020525.5:c.463-1266T>A MANE Select | NP_065386.1:n.463-1266T>A | |
| XR_002957418.1:n.281-14516A>T |