Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169726729G= , CM000663.2:g.169726729G= | GRCh38 |
| NC_000001.10:g.169695870G= , CM000663.1:g.169695870G= | GRCh37 |
| NC_000001.9:g.167962494G= | NCBI36 |
| NG_012124.1:g.12351C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000450.2:c.1723C= (SELE) MANE Select | NP_000441.2:p.Leu575= |
| ENST00000333360.12:c.1723C= (SELE) MANE Select | ENSP00000331736.7:p.Leu575= |
| ENST00000333360.11:c.1723C= (SELE) | ENSP00000331736.7:p.Leu575= |
| ENST00000367774.1:c.1345C= (SELE) | ENSP00000356748.1:p.Leu449= |
| ENST00000367775.5:c.1348C= (SELE) | ENSP00000356749.1:p.Leu450= |
| ENST00000367776.5:c.1534C= (SELE) | ENSP00000356750.1:p.Leu512= |
| ENST00000367777.5:c.1534C= (SELE) | ENSP00000356751.1:p.Leu512= |
| ENST00000498289.5:n.851+42797G= (FIRRM) |