Linked Data
gnomAD v4:
X-108084784-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084784C>T , CM000685.2:g.108084784C>T | GRCh38 |
| NC_000023.10:g.107328014C>T , CM000685.1:g.107328014C>T | GRCh37 |
| NC_000023.9:g.107214670C>T | NCBI36 |
| NG_012521.1:g.11835G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*190G>A MANE Select | ENSP00000217958.3:n.*190G>A | |
| ENST00000217958.7:c.*190G>A | ENSP00000217958.3:n.*190G>A | |
| ENST00000372295.5:c.*190G>A | ENSP00000361369.1:n.*190G>A | |
| ENST00000372296.5:c.*336G>A | ENSP00000361370.1:n.*336G>A | |
| NM_002814.3:c.*190G>A | NP_002805.1:n.*190G>A | |
| NM_170750.2:c.*336G>A | NP_736606.1:n.*336G>A | |
| NM_002814.4:c.*190G>A MANE Select | NP_002805.1:n.*190G>A | |
| NM_170750.3:c.*336G>A | NP_736606.1:n.*336G>A |