Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68252741T>A , CM000674.2:g.68252741T>A | GRCh38 |
| NC_000012.11:g.68646521T>A , CM000674.1:g.68646521T>A | GRCh37 |
| NC_000012.10:g.66932788T>A | NCBI36 |
| NG_060763.1:g.5864A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020525.5:c.252+23A>T MANE Select | NP_065386.1:n.252+23A>T |
| ENST00000538666.6:c.252+23A>T MANE Select | ENSP00000442424.1:n.252+23A>T |
| NM_020525.4:c.252+23A>T | NP_065386.1:n.252+23A>T |
| ENST00000328087.5:c.252+23A>T | ENSP00000329384.4:n.252+23A>T |
| ENST00000328087.6:c.252+23A>T | ENSP00000329384.4:n.252+23A>T |
| ENST00000538666.5:c.252+23A>T | ENSP00000442424.1:n.252+23A>T |
| XR_002957418.1:n.281-11917T>A | |
| XR_945055.1:n.265-11917T>A |