Linked Data
ClinVar Variation Id:
297719
dbSNP Id:
rs182138201
gnomAD v2:
1-55529491-C-T
gnomAD v3:
1-55063818-C-T
gnomAD v4:
1-55063818-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063818C>T , CM000663.2:g.55063818C>T | GRCh38 |
| NC_000001.10:g.55529491C>T , CM000663.1:g.55529491C>T | GRCh37 |
| NC_000001.9:g.55302079C>T | NCBI36 |
| NG_009061.1:g.29272C>T , LRG_275:g.29272C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*653C>T | ENSP00000501161.2:n.*653C>T | |
| ENST00000710286.1:c.*234C>T | ENSP00000518176.1:n.*234C>T | |
| ENST00000673903.1:c.*234C>T | ENSP00000501257.1:n.*234C>T | |
| ENST00000302118.5:c.*234C>T MANE Select | ENSP00000303208.5:n.*234C>T | |
| ENST00000490692.1:n.2859C>T | ||
| NM_174936.3:c.*234C>T , LRG_275t1:c.*234C>T | NP_777596.2:n.*234C>T | |
| NR_110451.1:n.1920C>T | ||
| XM_011541193.1:c.*234C>T | XP_011539495.1:n.*234C>T | |
| NM_174936.4:c.*234C>T MANE Select | NP_777596.2:n.*234C>T | |
| NR_110451.2:n.1920C>T |