Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984391T>C , CM000683.2:g.45984391T>C | GRCh38 |
| NC_000021.8:g.47404305T>C , CM000683.1:g.47404305T>C | GRCh37 |
| NC_000021.7:g.46228733T>C | NCBI36 |
| NG_008674.1:g.7643T>C , LRG_475:g.7643T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.350T>C MANE Select | NP_001839.2:p.Val117Ala |
| ENST00000361866.8:c.350T>C MANE Select | ENSP00000355180.3:p.Val117Ala |
| NM_001848.2:c.350T>C , LRG_475t1:c.350T>C | NP_001839.2:p.Val117Ala |
| ENST00000361866.7:c.350T>C | ENSP00000355180.3:p.Val117Ala |
| ENST00000612273.1:c.350T>C | ENSP00000483630.1:p.Val117Ala |