dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78357712A>T , CM000679.2:g.78357712A>T | GRCh38 |
| NC_000017.10:g.76353793A>T , CM000679.1:g.76353793A>T | GRCh37 |
| NC_000017.9:g.73865388A>T | NCBI36 |
| NG_016851.1:g.7366T>A , LRG_619:g.7366T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330871.3:c.*706T>A MANE Select | ENSP00000330341.2:n.*706T>A | |
| NM_003955.4:c.*706T>A , LRG_619t1:c.*706T>A | NP_003946.3:n.*706T>A | |
| NM_001378932.1:c.*706T>A | NP_001365861.1:n.*706T>A | |
| NM_001378933.1:c.*706T>A | NP_001365862.1:n.*706T>A | |
| NM_003955.5:c.*706T>A MANE Select | NP_003946.3:n.*706T>A |