Linked Data
gnomAD v4:
11-62418977-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62418977C>A , CM000673.2:g.62418977C>A | GRCh38 |
| NC_000011.9:g.62186449C>A , CM000673.1:g.62186449C>A | GRCh37 |
| NC_000011.8:g.61943025C>A | NCBI36 |
| NG_021331.1:g.4943C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000534397.5:c.-51+2340C>A | ENSP00000432866.1:n.-51+2340C>A | |
| XR_950170.1:n.378-2127G>T | ||
| XR_950171.1:n.234-2127G>T | ||
| XR_950172.1:n.234-2127G>T | ||
| XR_950173.1:n.234-2127G>T | ||
| XR_950174.1:n.234-2127G>T | ||
| XR_001748247.1:n.348-2127G>T | ||
| XR_001748248.1:n.453-2127G>T | ||
| XR_001748249.1:n.459-2127G>T | ||
| XR_001748250.1:n.455-2127G>T | ||
| XR_001748252.1:n.460-2127G>T | ||
| XR_001748253.1:n.180-2127G>T | ||
| XR_001748254.1:n.461-2127G>T | ||
| XR_002957250.1:n.451-2127G>T |