Linked Data
gnomAD v4:
1-55039502-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039502C>T , CM000663.2:g.55039502C>T | GRCh38 |
| NC_000001.10:g.55505175C>T , CM000663.1:g.55505175C>T | GRCh37 |
| NC_000001.9:g.55277763C>T | NCBI36 |
| NG_009061.1:g.4956C>T , LRG_275:g.4956C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.-336C>T | ENSP00000501161.2:n.-336C>T | |
| ENST00000710286.1:c.22C>T | ENSP00000518176.1:p.Leu8= | |
| ENST00000673726.1:c.-336C>T | ENSP00000501004.1:n.-336C>T | |
| NM_174936.3:c.-336C>T , LRG_275t1:c.-336C>T | NP_777596.2:n.-336C>T |