Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948975T>A , CM000679.2:g.16948975T>A | GRCh38 |
| NC_000017.10:g.16852289T>A , CM000679.1:g.16852289T>A | GRCh37 |
| NC_000017.9:g.16793014T>A | NCBI36 |
| NG_007281.1:g.28114A>T , LRG_120:g.28114A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.208A>T MANE Select | ENSP00000261652.2:p.Ser70Cys | |
| ENST00000261652.6:c.208A>T | ENSP00000261652.2:p.Ser70Cys | |
| ENST00000579315.5:c.208A>T | ENSP00000464069.1:p.Ser70Cys | |
| ENST00000581616.2:n.211A>T | ||
| ENST00000582931.5:n.112A>T | ||
| ENST00000583789.1:c.70A>T | ENSP00000462952.1:p.Ser24Cys | |
| ENST00000584950.5:c.70A>T | ENSP00000463582.1:p.Ser24Cys | |
| NM_012452.2:c.208A>T , LRG_120t1:c.208A>T | NP_036584.1:p.Ser70Cys | |
| NM_012452.3:c.208A>T MANE Select | NP_036584.1:p.Ser70Cys |