Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6011320C>A , CM000672.2:g.6011320C>A | GRCh38 |
| NC_000010.10:g.6053283C>A , CM000672.1:g.6053283C>A | GRCh37 |
| NC_000010.9:g.6093289C>A | NCBI36 |
| NG_007403.1:g.55990G>T , LRG_73:g.55990G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379959.8:c.*1552G>T MANE Select | ENSP00000369293.3:n.*1552G>T | |
| ENST00000649218.1:n.2186G>T | ||
| ENST00000379959.7:c.*1552G>T | ENSP00000369293.3:n.*1552G>T | |
| NM_000417.2:c.*1552G>T , LRG_73t1:c.*1552G>T | NP_000408.1:n.*1552G>T | |
| NM_001308242.1:c.*1552G>T | NP_001295171.1:n.*1552G>T | |
| NM_001308243.1:c.*1552G>T | NP_001295172.1:n.*1552G>T | |
| NM_000417.3:c.*1552G>T MANE Select | NP_000408.1:n.*1552G>T | |
| NM_001308242.2:c.*1552G>T | NP_001295171.1:n.*1552G>T | |
| NM_001308243.2:c.*1552G>T | NP_001295172.1:n.*1552G>T |