Linked Data
gnomAD v4:
20-45093106-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45093106G>A , CM000682.2:g.45093106G>A | GRCh38 |
| NC_000020.10:g.43721747G>A , CM000682.1:g.43721747G>A | GRCh37 |
| NC_000020.9:g.43155161G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537075.3:c.*1764C>T MANE Select | ENSP00000445595.1:n.*1764C>T | |
| ENST00000306117.5:c.*1764C>T | ENSP00000307694.1:n.*1764C>T | |
| NM_002251.3:c.*1764C>T | NP_002242.2:n.*1764C>T | |
| XM_005260409.3:c.*1764C>T | XP_005260466.1:n.*1764C>T | |
| NM_001322799.1:c.*1764C>T | NP_001309728.1:n.*1764C>T | |
| NM_002251.4:c.*1764C>T | NP_002242.2:n.*1764C>T | |
| XM_017027846.1:c.*1764C>T | XP_016883335.1:n.*1764C>T | |
| NM_001322799.2:c.*1764C>T MANE Select | NP_001309728.1:n.*1764C>T | |
| NM_002251.5:c.*1764C>T | NP_002242.2:n.*1764C>T |