Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31658338C>A , CM000668.2:g.31658338C>A | GRCh38 |
| NC_000006.11:g.31626115C>A , CM000668.1:g.31626115C>A | GRCh37 |
| NC_000006.10:g.31734094C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375911.2:c.*725G>T (C6orf47) MANE Select | ENSP00000365076.1:n.*725G>T | |
| ENST00000375911.1:c.*725G>T (C6orf47) | ENSP00000365076.1:n.*725G>T | |
| NM_021184.3:c.*725G>T (C6orf47) | NP_067007.3:n.*725G>T | |
| XM_011514895.1:c.-14+1983G>T (BAG6) | XP_011513197.1:n.-14+1983G>T | |
| XM_017011279.2:c.-14+1983G>T (BAG6) | XP_016866768.1:n.-14+1983G>T | |
| NM_021184.4:c.*725G>T (C6orf47) MANE Select | NP_067007.3:n.*725G>T |