Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.116942621C>A , CM000670.2:g.116942621C>A | GRCh38 |
| NC_000008.10:g.117954860C>A , CM000670.1:g.117954860C>A | GRCh37 |
| NC_000008.9:g.118024041C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378279.4:c.388C>A MANE Select | ENSP00000367528.3:p.Gln130Lys | |
| ENST00000378279.3:c.388C>A | ENSP00000367528.3:p.Gln130Lys | |
| ENST00000523536.1:n.199C>A | ||
| NM_001025357.2:c.388C>A | NP_001020528.1:p.Gln130Lys | |
| XM_011517043.1:c.*93C>A | XP_011515345.1:n.*93C>A | |
| NM_001025357.3:c.388C>A MANE Select | NP_001020528.1:p.Gln130Lys |