Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45600413C>T , CM000684.2:g.45600413C>T | GRCh38 |
| NC_000022.10:g.45996293C>T , CM000684.1:g.45996293C>T | GRCh37 |
| NC_000022.9:g.44374957C>T | NCBI36 |
| NG_023308.2:g.102575C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006486.3:c.2079C>T (FBLN1) MANE Select | NP_006477.3:p.Asn693= |
| ENST00000327858.11:c.2079C>T (FBLN1) MANE Select | ENSP00000331544.6:p.Asn693= |
| NM_006486.2:c.2079C>T (FBLN1) | NP_006477.2:p.Asn693= |
| ENST00000327858.10:c.2079C>T (FBLN1) | ENSP00000331544.6:p.Asn693= |
| XR_109732.4:n.1166+3795G>A (LINC01589) |