Linked Data
ClinVar Variation Id:
835416
ClinVar RCV Id:
RCV001036296
dbSNP Id:
rs1733871948
gnomAD v4:
4-41745941-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745941G>A , CM000666.2:g.41745941G>A | GRCh38 |
| NC_000004.11:g.41747958G>A , CM000666.1:g.41747958G>A | GRCh37 |
| NC_000004.10:g.41442715G>A | NCBI36 |
| NG_008243.1:g.8030C>T , LRG_513:g.8030C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.811C>T MANE Select | ENSP00000226382.2:p.Gln271Ter | |
| ENST00000226382.3:c.811C>T | ENSP00000226382.2:p.Gln271Ter | |
| NM_003924.3:c.811C>T , LRG_513t1:c.811C>T | NP_003915.2:p.Gln271Ter | |
| NM_003924.4:c.811C>T MANE Select | NP_003915.2:p.Gln271Ter |