Linked Data
ClinVar Variation Id:
2943392
ClinVar RCV Id:
RCV003800510
dbSNP Id:
rs1261101487
gnomAD v4:
5-179833728-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179833728C>T , CM000667.2:g.179833728C>T | GRCh38 |
| NC_000005.9:g.179260728C>T , CM000667.1:g.179260728C>T | GRCh37 |
| NC_000005.8:g.179193334C>T | NCBI36 |
| NG_011342.1:g.32341C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389805.9:c.1111C>T MANE Select | ENSP00000374455.4:p.Gln371Ter | |
| ENST00000360718.5:c.859C>T | ENSP00000353944.5:p.Gln287Ter | |
| ENST00000389805.8:c.1111C>T | ENSP00000374455.4:p.Gln371Ter | |
| ENST00000510187.5:c.950+501C>T | ENSP00000424477.1:n.950+501C>T | |
| NM_001142298.1:c.859C>T | NP_001135770.1:p.Gln287Ter | |
| NM_001142299.1:c.859C>T | NP_001135771.1:p.Gln287Ter | |
| NM_003900.4:c.1111C>T | NP_003891.1:p.Gln371Ter | |
| XM_017010010.1:c.859C>T | XP_016865499.1:p.Gln287Ter | |
| NM_003900.5:c.1111C>T MANE Select | NP_003891.1:p.Gln371Ter | |
| NM_001142298.2:c.859C>T | NP_001135770.1:p.Gln287Ter | |
| NM_001142299.2:c.859C>T | NP_001135771.1:p.Gln287Ter |