Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709693C>A , CM000681.2:g.6709693C>A | GRCh38 |
| NC_000019.9:g.6709704C>A , CM000681.1:g.6709704C>A | GRCh37 |
| NC_000019.8:g.6660704C>A | NCBI36 |
| NG_009557.1:g.15959G>T , LRG_27:g.15959G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1836G>T MANE Select | NP_000055.2:p.Thr612= |
| ENST00000245907.11:c.1836G>T MANE Select | ENSP00000245907.4:p.Thr612= |
| NM_000064.3:c.1836G>T | NP_000055.2:p.Thr612= |
| ENST00000245907.10:c.1836G>T | ENSP00000245907.4:p.Thr612= |
| ENST00000695652.1:c.1713G>T | ENSP00000512083.1:p.Thr571= |
| ENST00000695654.1:c.960G>T | ENSP00000512085.1:p.Thr320= |
| ENST00000695655.1:c.777G>T | ENSP00000512086.1:n.777G>T |
| ENST00000695692.1:n.1200G>T |