Linked Data
gnomAD v4:
11-6318999-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6318999C>A , CM000673.2:g.6318999C>A | GRCh38 |
| NC_000011.9:g.6340229C>A , CM000673.1:g.6340229C>A | GRCh37 |
| NC_000011.8:g.6296805C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.*164G>T MANE Select | ENSP00000307292.3:n.*164G>T | |
| ENST00000303927.3:c.*164G>T | ENSP00000307292.3:n.*164G>T | |
| ENST00000532354.1:n.972G>T | ||
| NM_145040.2:c.*164G>T | NP_659477.2:n.*164G>T | |
| XR_930997.1:n.720+779C>A | ||
| NM_145040.3:c.*164G>T MANE Select | NP_659477.2:n.*164G>T |