Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6707852G>A , CM000681.2:g.6707852G>A | GRCh38 |
| NC_000019.9:g.6707863G>A , CM000681.1:g.6707863G>A | GRCh37 |
| NC_000019.8:g.6658863G>A | NCBI36 |
| NG_009557.1:g.17800C>T , LRG_27:g.17800C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1923C>T MANE Select | NP_000055.2:p.Asp641= |
| ENST00000245907.11:c.1923C>T MANE Select | ENSP00000245907.4:p.Asp641= |
| NM_000064.3:c.1923C>T | NP_000055.2:p.Asp641= |
| ENST00000245907.10:c.1923C>T | ENSP00000245907.4:p.Asp641= |
| ENST00000695651.1:n.194C>T | |
| ENST00000695652.1:c.1800C>T | ENSP00000512083.1:p.Asp600= |
| ENST00000695654.1:c.1047C>T | ENSP00000512085.1:p.Asp349= |
| ENST00000695655.1:c.864C>T | ENSP00000512086.1:n.864C>T |
| ENST00000695692.1:n.1287C>T |