Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948885A>G , CM000679.2:g.16948885A>G | GRCh38 |
| NC_000017.10:g.16852199A>G , CM000679.1:g.16852199A>G | GRCh37 |
| NC_000017.9:g.16792924A>G | NCBI36 |
| NG_007281.1:g.28204T>C , LRG_120:g.28204T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.298T>C MANE Select | ENSP00000261652.2:p.Cys100Arg | |
| ENST00000261652.6:c.298T>C | ENSP00000261652.2:p.Cys100Arg | |
| ENST00000579315.5:c.298T>C | ENSP00000464069.1:p.Cys100Arg | |
| ENST00000581616.2:n.301T>C | ||
| ENST00000582931.5:n.202T>C | ||
| ENST00000583789.1:c.160T>C | ENSP00000462952.1:p.Cys54Arg | |
| ENST00000584950.5:c.160T>C | ENSP00000463582.1:p.Cys54Arg | |
| NM_012452.2:c.298T>C , LRG_120t1:c.298T>C | NP_036584.1:p.Cys100Arg | |
| NM_012452.3:c.298T>C MANE Select | NP_036584.1:p.Cys100Arg |