Linked Data
gnomAD v4:
19-55151821-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151821T>G , CM000681.2:g.55151821T>G | GRCh38 |
| NC_000019.9:g.55663189T>G , CM000681.1:g.55663189T>G | GRCh37 |
| NC_000019.8:g.60355001T>G | NCBI36 |
| NG_007866.2:g.10912A>C , LRG_432:g.10912A>C | |
| NG_011829.2:g.2418A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.*13A>C MANE Select | ENSP00000341838.5:n.*13A>C | |
| ENST00000665070.1:c.*13A>C | ENSP00000499482.1:n.*13A>C | |
| ENST00000344887.9:c.*13A>C | ENSP00000341838.5:n.*13A>C | |
| ENST00000585806.5:n.645A>C | ||
| ENST00000588882.1:c.*13A>C | ENSP00000466729.1:n.*13A>C | |
| ENST00000589864.1:n.474A>C | ||
| NM_000363.4:c.*13A>C , LRG_432t1:c.*13A>C | NP_000354.4:n.*13A>C | |
| NM_000363.5:c.*13A>C MANE Select | NP_000354.4:n.*13A>C |