Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96250510T>A , CM000664.2:g.96250510T>A | GRCh38 |
| NC_000002.11:g.96916248T>A , CM000664.1:g.96916248T>A | GRCh37 |
| NC_000002.10:g.96279975T>A | NCBI36 |
| NG_027695.1:g.20504A>T , LRG_528:g.20504A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.*3298A>T MANE Select | ENSP00000258439.3:n.*3298A>T | |
| ENST00000258439.7:c.*3298A>T | ENSP00000258439.2:n.*3298A>T | |
| NM_001193304.2:c.*3298A>T | NP_001180233.1:n.*3298A>T | |
| NM_017849.3:c.*3298A>T , LRG_528t1:c.*3298A>T | NP_060319.1:n.*3298A>T | |
| XM_017004450.1:c.*2599A>T | XP_016859939.1:n.*2599A>T | |
| XM_017004452.1:c.*3298A>T | XP_016859941.1:n.*3298A>T | |
| NM_001193304.3:c.*3298A>T | NP_001180233.1:n.*3298A>T | |
| NM_017849.4:c.*3298A>T MANE Select | NP_060319.1:n.*3298A>T |