Linked Data
gnomAD v4:
1-114706900-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114706900G>T , CM000663.2:g.114706900G>T | GRCh38 |
| NC_000001.10:g.115249521G>T , CM000663.1:g.115249521G>T | GRCh37 |
| NC_000001.9:g.115051044G>T | NCBI36 |
| NG_007572.1:g.14995C>A , LRG_92:g.14995C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.*1194C>A MANE Select | ENSP00000358548.4:n.*1194C>A | |
| ENST00000369535.4:c.*1194C>A | ENSP00000358548.4:n.*1194C>A | |
| NM_002524.4:c.*1194C>A | NP_002515.1:n.*1194C>A | |
| NM_002524.5:c.*1194C>A MANE Select | NP_002515.1:n.*1194C>A |