Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154931575C= , CM000685.2:g.154931575C= | GRCh38 |
| NC_000023.10:g.154159850C= , CM000685.1:g.154159850C= | GRCh37 |
| NC_000023.9:g.153813044C= | NCBI36 |
| NG_011403.1:g.96149G= | |
| NG_011403.2:g.96149G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.2215G= MANE Select | NP_000123.1:p.Glu739= |
| ENST00000360256.9:c.2215G= MANE Select | ENSP00000353393.4:p.Glu739= |
| NM_000132.3:c.2215G= | NP_000123.1:p.Glu739= |
| ENST00000360256.8:c.2215G= | ENSP00000353393.4:p.Glu739= |
| ENST00000647125.1:c.*1881G= | ENSP00000496062.1:n.*1881G= |
| XM_011531126.1:c.2110G= | XP_011529428.1:p.Glu704= |