Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71941293G>T , CM000674.2:g.71941293G>T | GRCh38 |
| NC_000012.11:g.72335073G>T , CM000674.1:g.72335073G>T | GRCh37 |
| NC_000012.10:g.70621340G>T | NCBI36 |
| NG_008279.1:g.7448G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.106-291G>T MANE Select | ENSP00000329093.3:n.106-291G>T | |
| ENST00000333850.3:c.106-291G>T | ENSP00000329093.3:n.106-291G>T | |
| ENST00000546576.1:n.116-291G>T | ||
| NM_173353.3:c.106-291G>T | NP_775489.2:n.106-291G>T | |
| XR_245894.2:n.206-291G>T | ||
| XR_001748575.1:n.206-291G>T | ||
| NM_173353.4:c.106-291G>T MANE Select | NP_775489.2:n.106-291G>T |