Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68250838T>G , CM000674.2:g.68250838T>G | GRCh38 |
| NC_000012.11:g.68644618T>G , CM000674.1:g.68644618T>G | GRCh37 |
| NC_000012.10:g.66930885T>G | NCBI36 |
| NG_060763.1:g.7767A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020525.5:c.462+675A>C MANE Select | NP_065386.1:n.462+675A>C |
| ENST00000538666.6:c.462+675A>C MANE Select | ENSP00000442424.1:n.462+675A>C |
| NM_020525.4:c.462+675A>C | NP_065386.1:n.462+675A>C |
| ENST00000328087.5:c.462+675A>C | ENSP00000329384.4:n.462+675A>C |
| ENST00000328087.6:c.462+675A>C | ENSP00000329384.4:n.462+675A>C |
| ENST00000538666.5:c.462+675A>C | ENSP00000442424.1:n.462+675A>C |
| XR_002957418.1:n.281-13820T>G | |
| XR_945055.1:n.265-13820T>G |