Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45600086T>C , CM000684.2:g.45600086T>C | GRCh38 |
| NC_000022.10:g.45995966T>C , CM000684.1:g.45995966T>C | GRCh37 |
| NC_000022.9:g.44374630T>C | NCBI36 |
| NG_023308.2:g.102248T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006486.3:c.1973-221T>C (FBLN1) MANE Select | NP_006477.3:n.1973-221T>C |
| ENST00000327858.11:c.1973-221T>C (FBLN1) MANE Select | ENSP00000331544.6:n.1973-221T>C |
| NM_006486.2:c.1973-221T>C (FBLN1) | NP_006477.2:n.1973-221T>C |
| ENST00000327858.10:c.1973-221T>C (FBLN1) | ENSP00000331544.6:n.1973-221T>C |
| XR_109732.4:n.1166+4122A>G (LINC01589) |