Linked Data
ClinVar Variation Id:
348910
dbSNP Id:
rs55681376
ExAC:
4:55161478 C / T
gnomAD v2:
4-55161478-C-T
gnomAD v3:
4-54295311-C-T
gnomAD v4:
4-54295311-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54295311C>T , CM000666.2:g.54295311C>T | GRCh38 |
| NC_000004.11:g.55161478C>T , CM000666.1:g.55161478C>T | GRCh37 |
| NC_000004.10:g.54856235C>T | NCBI36 |
| NG_009250.1:g.71215C>T , LRG_309:g.71215C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257290.10:c.*39C>T MANE Select | ENSP00000257290.5:n.*39C>T | |
| ENST00000257290.9:c.*39C>T | ENSP00000257290.5:n.*39C>T | |
| NM_006206.4:c.*39C>T , LRG_309t1:c.*39C>T | NP_006197.1:n.*39C>T | |
| XM_005265743.1:c.*39C>T | XP_005265800.1:n.*39C>T | |
| XM_006714039.2:c.*39C>T | XP_006714102.1:n.*39C>T | |
| XM_011534385.1:c.*39C>T | XP_011532687.1:n.*39C>T | |
| XM_011534386.1:c.*39C>T | XP_011532688.1:n.*39C>T | |
| NM_001347828.1:c.*39C>T | NP_001334757.1:n.*39C>T | |
| NM_001347829.1:c.*39C>T | NP_001334758.1:n.*39C>T | |
| NM_001347830.1:c.*39C>T | NP_001334759.1:n.*39C>T | |
| NM_006206.5:c.*39C>T | NP_006197.1:n.*39C>T | |
| NM_006206.6:c.*39C>T MANE Select | NP_006197.1:n.*39C>T | |
| NM_001347828.2:c.*39C>T | NP_001334757.1:n.*39C>T | |
| NM_001347829.2:c.*39C>T | NP_001334758.1:n.*39C>T | |
| NM_001347830.2:c.*39C>T | NP_001334759.1:n.*39C>T |