Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6712362G>A , CM000681.2:g.6712362G>A | GRCh38 |
| NC_000019.9:g.6712373G>A , CM000681.1:g.6712373G>A | GRCh37 |
| NC_000019.8:g.6663373G>A | NCBI36 |
| NG_009557.1:g.13290C>T , LRG_27:g.13290C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1164C>T MANE Select | NP_000055.2:p.Pro388= |
| ENST00000245907.11:c.1164C>T MANE Select | ENSP00000245907.4:p.Pro388= |
| NM_000064.3:c.1164C>T | NP_000055.2:p.Pro388= |
| ENST00000245907.10:c.1164C>T | ENSP00000245907.4:p.Pro388= |
| ENST00000594270.5:n.267C>T | |
| ENST00000595577.1:n.668C>T | |
| ENST00000597442.5:n.414C>T | |
| ENST00000695652.1:c.1041C>T | ENSP00000512083.1:p.Pro347= |
| ENST00000695654.1:c.288C>T | ENSP00000512085.1:p.Pro96= |
| ENST00000695655.1:c.45C>T | ENSP00000512086.1:p.Pro15= |
| ENST00000695692.1:n.528C>T |