Linked Data
gnomAD v4:
6-111222719-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111222719C>A , CM000668.2:g.111222719C>A | GRCh38 |
| NC_000006.11:g.111543922C>A , CM000668.1:g.111543922C>A | GRCh37 |
| NC_000006.10:g.111650615C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368851.10:c.*484C>A MANE Select | ENSP00000357844.4:n.*484C>A | |
| ENST00000368850.4:c.*484C>A | ENSP00000357843.1:n.*484C>A | |
| ENST00000368851.9:c.*484C>A | ENSP00000357844.4:n.*484C>A | |
| NM_018593.4:c.*484C>A | NP_061063.2:n.*484C>A | |
| XM_005266818.2:c.*438C>A | XP_005266875.1:n.*438C>A | |
| XM_017010237.1:c.*484C>A | XP_016865726.1:n.*484C>A | |
| XR_001743158.1:n.2314C>A | ||
| NM_018593.5:c.*484C>A MANE Select | NP_061063.2:n.*484C>A |