Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714411C>T , CM000681.2:g.6714411C>T | GRCh38 |
| NC_000019.9:g.6714422C>T , CM000681.1:g.6714422C>T | GRCh37 |
| NC_000019.8:g.6665422C>T | NCBI36 |
| NG_009557.1:g.11241G>A , LRG_27:g.11241G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.417G>A | ENSP00000512083.1:p.Leu139= | |
| ENST00000245907.11:c.540G>A MANE Select | ENSP00000245907.4:p.Leu180= | |
| ENST00000245907.10:c.540G>A | ENSP00000245907.4:p.Leu180= | |
| NM_000064.3:c.540G>A | NP_000055.2:p.Leu180= | |
| NM_000064.4:c.540G>A MANE Select | NP_000055.2:p.Leu180= |