Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18672062G>A , CM000685.2:g.18672062G>A | GRCh38 |
| NC_000023.10:g.18690182G>A , CM000685.1:g.18690182G>A | GRCh37 |
| NC_000023.9:g.18600103G>A | NCBI36 |
| NG_008659.3:g.10387C>T , LRG_702:g.10387C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.7C>T MANE Select | ENSP00000369320.3:p.Arg3Cys | |
| ENST00000379984.3:c.7C>T | ENSP00000369320.3:p.Arg3Cys | |
| NM_000330.3:c.7C>T , LRG_702t1:c.7C>T | NP_000321.1:p.Arg3Cys | |
| NM_000330.4:c.7C>T MANE Select | NP_000321.1:p.Arg3Cys |