Linked Data
ClinVar Variation Id:
880357
dbSNP Id:
rs886985086
gnomAD v2:
10-43625233-C-T
gnomAD v3:
10-43129785-C-T
gnomAD v4:
10-43129785-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43129785C>T , CM000672.2:g.43129785C>T | GRCh38 |
| NC_000010.10:g.43625233C>T , CM000672.1:g.43625233C>T | GRCh37 |
| NC_000010.9:g.42945239C>T | NCBI36 |
| NG_007489.1:g.57717C>T , LRG_518:g.57717C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.*3031C>T | ENSP00000480088.2:n.*3031C>T | |
| ENST00000683007.1:n.5824C>T | ||
| ENST00000355710.8:c.*1516C>T MANE Select | ENSP00000347942.3:n.*1516C>T | |
| ENST00000355710.7:c.*1516C>T | ENSP00000347942.3:n.*1516C>T | |
| ENST00000615310.4:c.*2210C>T | ENSP00000480088.1:n.*2210C>T | |
| NM_020975.4:c.*1516C>T , LRG_518t1:c.*1516C>T | NP_066124.1:n.*1516C>T | |
| XM_011540027.1:c.*284C>T | XP_011538329.1:n.*284C>T | |
| NM_020975.5:c.*1516C>T | NP_066124.1:n.*1516C>T | |
| NM_020975.6:c.*1516C>T MANE Select | NP_066124.1:n.*1516C>T |