Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212131C>T , CM000670.2:g.23212131C>T | GRCh38 |
| NC_000008.10:g.23069644C>T , CM000670.1:g.23069644C>T | GRCh37 |
| NC_000008.9:g.23125589C>T | NCBI36 |
| NG_032107.1:g.18037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.388G>A MANE Select | ENSP00000221132.3:p.Glu130Lys | |
| ENST00000221132.7:c.388G>A | ENSP00000221132.3:p.Glu130Lys | |
| ENST00000524158.5:c.-219G>A | ENSP00000428884.1:n.-219G>A | |
| ENST00000613472.1:c.32-9472G>A | ENSP00000480778.1:n.32-9472G>A | |
| NM_003844.3:c.388G>A | NP_003835.3:p.Glu130Lys | |
| NM_003844.4:c.388G>A MANE Select | NP_003835.3:p.Glu130Lys |