Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16939770A>G , CM000679.2:g.16939770A>G | GRCh38 |
| NC_000017.10:g.16843084A>G , CM000679.1:g.16843084A>G | GRCh37 |
| NC_000017.9:g.16783809A>G | NCBI36 |
| NG_007281.1:g.37319T>C , LRG_120:g.37319T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.659T>C MANE Select | ENSP00000261652.2:p.Val220Ala | |
| ENST00000261652.6:c.659T>C | ENSP00000261652.2:p.Val220Ala | |
| ENST00000579009.1:n.1293T>C | ||
| ENST00000579315.5:c.446-6594T>C | ENSP00000464069.1:n.446-6594T>C | |
| ENST00000582931.5:n.350-6833T>C | ||
| ENST00000583789.1:c.521T>C | ENSP00000462952.1:p.Val174Ala | |
| ENST00000584950.5:c.521T>C | ENSP00000463582.1:p.Val174Ala | |
| NM_012452.2:c.659T>C , LRG_120t1:c.659T>C | NP_036584.1:p.Val220Ala | |
| NM_012452.3:c.659T>C MANE Select | NP_036584.1:p.Val220Ala |