Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6707888C>T , CM000681.2:g.6707888C>T | GRCh38 |
| NC_000019.9:g.6707899C>T , CM000681.1:g.6707899C>T | GRCh37 |
| NC_000019.8:g.6658899C>T | NCBI36 |
| NG_009557.1:g.17764G>A , LRG_27:g.17764G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1887G>A MANE Select | NP_000055.2:p.Pro629= |
| ENST00000245907.11:c.1887G>A MANE Select | ENSP00000245907.4:p.Pro629= |
| NM_000064.3:c.1887G>A | NP_000055.2:p.Pro629= |
| ENST00000245907.10:c.1887G>A | ENSP00000245907.4:p.Pro629= |
| ENST00000695651.1:n.158G>A | |
| ENST00000695652.1:c.1764G>A | ENSP00000512083.1:p.Pro588= |
| ENST00000695654.1:c.1011G>A | ENSP00000512085.1:p.Pro337= |
| ENST00000695655.1:c.828G>A | ENSP00000512086.1:n.828G>A |
| ENST00000695692.1:n.1251G>A |