Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813690C>T , CM000671.2:g.129813690C>T | GRCh38 |
| NC_000009.11:g.132575969C>T , CM000671.1:g.132575969C>T | GRCh37 |
| NC_000009.10:g.131615790C>T | NCBI36 |
| NG_008049.1:g.15473G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*282G>A MANE Select | ENSP00000345719.4:n.*282G>A | |
| ENST00000651202.1:c.*549G>A | ENSP00000498222.1:n.*549G>A | |
| ENST00000351698.4:c.*282G>A | ENSP00000345719.4:n.*282G>A | |
| ENST00000474192.1:n.865G>A | ||
| NM_000113.2:c.*282G>A | NP_000104.1:n.*282G>A | |
| XR_929731.3:n.1476G>A | ||
| NM_000113.3:c.*282G>A MANE Select | NP_000104.1:n.*282G>A |