Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34923169C>T , CM000667.2:g.34923169C>T | GRCh38 |
| NC_000005.9:g.34923274C>T , CM000667.1:g.34923274C>T | GRCh37 |
| NC_000005.8:g.34959031C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018321.4:c.598C>T (BRIX1) MANE Select | NP_060791.3:p.Pro200Ser |
| ENST00000336767.6:c.598C>T (BRIX1) MANE Select | ENSP00000338862.5:p.Pro200Ser |
| NM_018321.3:c.598C>T (BRIX1) | NP_060791.3:p.Pro200Ser |
| NR_169875.1:n.1412C>T (TTC23L) | |
| NR_169876.1:n.1486C>T (TTC23L) | |
| ENST00000336767.5:c.598C>T (BRIX1) | ENSP00000338862.5:p.Pro200Ser |
| ENST00000506023.1:n.429C>T (BRIX1) | |
| ENST00000510960.5:n.973C>T (BRIX1) | |
| ENST00000515798.5:n.1297C>T (BRIX1) |