Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022649G>A , CM000663.2:g.17022649G>A | GRCh38 |
| NC_000001.10:g.17349144G>A , CM000663.1:g.17349144G>A | GRCh37 |
| NC_000001.9:g.17221731G>A | NCBI36 |
| NG_012340.1:g.36522C>T , LRG_316:g.36522C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.553C>T | ENSP00000481376.2:p.Arg185Cys | |
| ENST00000491274.6:c.682C>T | ENSP00000480482.2:p.Arg228Cys | |
| ENST00000375499.8:c.724C>T MANE Select | ENSP00000364649.3:p.Arg242Cys | |
| ENST00000375499.7:c.724C>T | ENSP00000364649.3:p.Arg242Cys | |
| ENST00000475049.5:n.149C>T | ||
| ENST00000485092.5:n.388C>T | ||
| ENST00000485515.5:n.658C>T | ||
| NM_003000.2:c.724C>T , LRG_316t1:c.724C>T | NP_002991.2:p.Arg242Cys | |
| NM_003000.3:c.724C>T MANE Select | NP_002991.2:p.Arg242Cys |