Linked Data
ClinVar Variation Id:
348875
dbSNP Id:
rs79282232
gnomAD v2:
4-52889399-G-A
gnomAD v3:
4-52023233-G-A
gnomAD v4:
4-52023233-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52023233G>A , CM000666.2:g.52023233G>A | GRCh38 |
| NC_000004.11:g.52889399G>A , CM000666.1:g.52889399G>A | GRCh37 |
| NC_000004.10:g.52584156G>A | NCBI36 |
| NG_008891.1:g.20087C>T , LRG_204:g.20087C>T | |
| NG_053164.1:g.2079C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.*724C>T MANE Select | ENSP00000370839.6:n.*724C>T | |
| ENST00000381431.9:c.*724C>T | ENSP00000370839.5:n.*724C>T | |
| NM_000232.4:c.*724C>T , LRG_204t1:c.*724C>T | NP_000223.1:n.*724C>T | |
| XM_006714049.2:c.*724C>T | XP_006714112.1:n.*724C>T | |
| XM_011534403.1:c.*724C>T | XP_011532705.1:n.*724C>T | |
| XM_011534404.1:c.*724C>T | XP_011532706.1:n.*724C>T | |
| NM_000232.5:c.*724C>T MANE Select | NP_000223.1:n.*724C>T |