Linked Data
ClinVar Variation Id:
296140
ClinVar RCV Id:
RCV000365870
dbSNP Id:
rs780763661
gnomAD v4:
1-231277737-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231277737C>T , CM000663.2:g.231277737C>T | GRCh38 |
| NC_000001.10:g.231413483C>T , CM000663.1:g.231413483C>T | GRCh37 |
| NC_000001.9:g.229480106C>T | NCBI36 |
| NG_008240.1:g.41565C>T | |
| NG_008240.2:g.41565C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366647.9:c.*195C>T MANE Select | ENSP00000355607.4:n.*195C>T | |
| ENST00000644483.1:c.*1924C>T | ENSP00000496537.1:n.*1924C>T | |
| ENST00000366647.8:c.*195C>T | ENSP00000355607.4:n.*195C>T | |
| NM_001316350.1:c.*195C>T | NP_001303279.1:n.*195C>T | |
| NM_014236.3:c.*195C>T | NP_055051.1:n.*195C>T | |
| XM_005273313.3:c.*195C>T | XP_005273370.1:n.*195C>T | |
| XM_011544303.1:c.*195C>T | XP_011542605.1:n.*195C>T | |
| XM_011544304.1:c.*195C>T | XP_011542606.1:n.*195C>T | |
| XM_005273313.4:c.*195C>T | XP_005273370.1:n.*195C>T | |
| XM_011544303.3:c.*195C>T | XP_011542605.1:n.*195C>T | |
| XM_011544304.2:c.*195C>T | XP_011542606.1:n.*195C>T | |
| NM_014236.4:c.*195C>T MANE Select | NP_055051.1:n.*195C>T | |
| NM_001316350.2:c.*195C>T | NP_001303279.1:n.*195C>T |