Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713205G>A , CM000681.2:g.6713205G>A | GRCh38 |
| NC_000019.9:g.6713216G>A , CM000681.1:g.6713216G>A | GRCh37 |
| NC_000019.8:g.6664216G>A | NCBI36 |
| NG_009557.1:g.12447C>T , LRG_27:g.12447C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.987C>T MANE Select | NP_000055.2:p.Thr329= |
| ENST00000245907.11:c.987C>T MANE Select | ENSP00000245907.4:p.Thr329= |
| NM_000064.3:c.987C>T | NP_000055.2:p.Thr329= |
| ENST00000245907.10:c.987C>T | ENSP00000245907.4:p.Thr329= |
| ENST00000594270.5:n.111C>T | |
| ENST00000595577.1:n.491C>T | |
| ENST00000597442.5:n.237C>T | |
| ENST00000695652.1:c.864C>T | ENSP00000512083.1:p.Thr288= |
| ENST00000695654.1:c.111C>T | ENSP00000512085.1:p.Thr37= |
| ENST00000695692.1:n.311C>T |