Linked Data
ClinVar Variation Id:
2416682
ClinVar RCV Id:
RCV003108933
dbSNP Id:
rs1303019427
gnomAD v2:
8-103244471-T-C
gnomAD v4:
8-102232243-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102232243T>C , CM000670.2:g.102232243T>C | GRCh38 |
| NC_000008.10:g.103244471T>C , CM000670.1:g.103244471T>C | GRCh37 |
| NC_000008.9:g.103313647T>C | NCBI36 |
| NG_016617.1:g.11876A>G , LRG_788:g.11876A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.110A>G MANE Select | ENSP00000251810.3:p.Lys37Arg | |
| ENST00000251810.7:c.110A>G | ENSP00000251810.3:p.Lys37Arg | |
| ENST00000395912.6:c.49-6209A>G | ENSP00000379248.2:n.49-6209A>G | |
| ENST00000517517.1:n.419A>G | ||
| ENST00000519317.5:c.48+6584A>G | ENSP00000430641.1:n.48+6584A>G | |
| ENST00000519962.5:c.48+6584A>G | ENSP00000429140.1:n.48+6584A>G | |
| ENST00000522368.5:c.279A>G | ||
| ENST00000522394.1:c.110A>G | ENSP00000429578.1:p.Lys37Arg | |
| ENST00000523957.1:c.*33A>G | ENSP00000427830.1:n.*33A>G | |
| ENST00000621845.1:c.-53A>G | ENSP00000484318.1:n.-53A>G | |
| NM_001172477.1:c.326A>G , LRG_788t1:c.326A>G | NP_001165948.1:p.Lys109Arg | |
| NM_001172478.1:c.49-6209A>G | NP_001165949.1:n.49-6209A>G | |
| NM_015713.4:c.110A>G , LRG_788t2:c.110A>G | NP_056528.2:p.Lys37Arg | |
| NM_001172478.2:c.49-6209A>G | NP_001165949.1:n.49-6209A>G | |
| NM_015713.5:c.110A>G MANE Select | NP_056528.2:p.Lys37Arg |