Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6712529T>C , CM000681.2:g.6712529T>C | GRCh38 |
| NC_000019.9:g.6712540T>C , CM000681.1:g.6712540T>C | GRCh37 |
| NC_000019.8:g.6663540T>C | NCBI36 |
| NG_009557.1:g.13123A>G , LRG_27:g.13123A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1098A>G MANE Select | NP_000055.2:p.Pro366= |
| ENST00000245907.11:c.1098A>G MANE Select | ENSP00000245907.4:p.Pro366= |
| NM_000064.3:c.1098A>G | NP_000055.2:p.Pro366= |
| ENST00000245907.10:c.1098A>G | ENSP00000245907.4:p.Pro366= |
| ENST00000594270.5:n.201A>G | |
| ENST00000595577.1:n.602A>G | |
| ENST00000597442.5:n.348A>G | |
| ENST00000695652.1:c.975A>G | ENSP00000512083.1:p.Pro325= |
| ENST00000695654.1:c.222A>G | ENSP00000512085.1:p.Pro74= |
| ENST00000695692.1:n.462A>G |