Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271140C= , CM000668.2:g.31271140C= | GRCh38 |
| NC_000006.11:g.31238917C= , CM000668.1:g.31238917C= | GRCh37 |
| NC_000006.10:g.31346896C= | NCBI36 |
| NG_029422.2:g.5992G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.552G= MANE Select | ENSP00000365402.5:p.Leu184= | |
| ENST00000376228.9:c.552G= | ENSP00000365402.5:p.Leu184= | |
| ENST00000376237.8:c.*139G= | ENSP00000365412.4:n.*139G= | |
| ENST00000383329.7:c.552G= | ENSP00000372819.3:p.Leu184= | |
| ENST00000415537.1:c.550G= | ||
| ENST00000484378.1:n.821G= | ||
| ENST00000487245.5:n.911G= | ||
| ENST00000495835.1:n.741G= | ||
| NM_002117.5:c.552G= | NP_002108.4:p.Leu184= | |
| NM_002117.6:c.552G= MANE Select | NP_002108.4:p.Leu184= |