Linked Data
ClinVar Variation Id:
352345
dbSNP Id:
rs543082767
gnomAD v2:
5-156187154-C-T
gnomAD v3:
5-156760143-C-T
gnomAD v4:
5-156760143-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156760143C>T , CM000667.2:g.156760143C>T | GRCh38 |
| NC_000005.9:g.156187154C>T , CM000667.1:g.156187154C>T | GRCh37 |
| NC_000005.8:g.156119732C>T | NCBI36 |
| NG_008693.2:g.894801C>T , LRG_205:g.894801C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337851.9:c.*753C>T MANE Select | ENSP00000338343.4:n.*753C>T | |
| ENST00000435422.7:c.*753C>T | ENSP00000403003.2:n.*753C>T | |
| NM_000337.5:c.*753C>T , LRG_205t1:c.*753C>T | NP_000328.2:n.*753C>T | |
| NM_001128209.1:c.*753C>T | NP_001121681.1:n.*753C>T | |
| XM_005265966.3:c.*753C>T | XP_005266023.1:n.*753C>T | |
| XM_006714911.2:c.*753C>T | XP_006714974.1:n.*753C>T | |
| XM_011534621.1:c.*753C>T | XP_011532923.1:n.*753C>T | |
| NM_001128209.2:c.*753C>T | NP_001121681.1:n.*753C>T | |
| NM_000337.6:c.*753C>T MANE Select | NP_000328.2:n.*753C>T |