Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128360026T>A , CM000674.2:g.128360026T>A | GRCh38 |
| NC_000012.11:g.128844571T>A , CM000674.1:g.128844571T>A | GRCh37 |
| NC_000012.10:g.127410524T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435159.3:c.86-54706T>A MANE Select | ENSP00000410852.2:n.86-54706T>A | |
| ENST00000435159.2:c.86-54706T>A | ENSP00000410852.2:n.86-54706T>A | |
| NM_001136103.2:c.86-54706T>A | NP_001129575.2:n.86-54706T>A | |
| XM_011538998.1:c.26-54706T>A | XP_011537300.1:n.26-54706T>A | |
| XM_011538998.2:c.26-54706T>A | XP_011537300.1:n.26-54706T>A | |
| XR_001748922.1:n.319-54706T>A | ||
| NM_001136103.3:c.86-54706T>A MANE Select | NP_001129575.2:n.86-54706T>A | |
| NM_001387058.1:c.26-54706T>A | NP_001373987.1:n.26-54706T>A |