Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714403T>A , CM000681.2:g.6714403T>A | GRCh38 |
| NC_000019.9:g.6714414T>A , CM000681.1:g.6714414T>A | GRCh37 |
| NC_000019.8:g.6665414T>A | NCBI36 |
| NG_009557.1:g.11249A>T , LRG_27:g.11249A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.425A>T | ENSP00000512083.1:p.Gln142Leu | |
| ENST00000245907.11:c.548A>T MANE Select | ENSP00000245907.4:p.Gln183Leu | |
| ENST00000245907.10:c.548A>T | ENSP00000245907.4:p.Gln183Leu | |
| NM_000064.3:c.548A>T | NP_000055.2:p.Gln183Leu | |
| NM_000064.4:c.548A>T MANE Select | NP_000055.2:p.Gln183Leu |