Linked Data
dbSNP Id:
rs768408766
ExAC:
8:103244329 A / C
gnomAD v2:
8-103244329-A-C
gnomAD v3:
8-102232101-A-C
gnomAD v4:
8-102232101-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102232101A>C , CM000670.2:g.102232101A>C | GRCh38 |
| NC_000008.10:g.103244329A>C , CM000670.1:g.103244329A>C | GRCh37 |
| NC_000008.9:g.103313505A>C | NCBI36 |
| NG_016617.1:g.12018T>G , LRG_788:g.12018T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.204+48T>G MANE Select | ENSP00000251810.3:n.204+48T>G | |
| ENST00000251810.7:c.204+48T>G | ENSP00000251810.3:n.204+48T>G | |
| ENST00000395912.6:c.49-6067T>G | ENSP00000379248.2:n.49-6067T>G | |
| ENST00000517517.1:n.513+48T>G | ||
| ENST00000519317.5:c.48+6726T>G | ENSP00000430641.1:n.48+6726T>G | |
| ENST00000519962.5:c.48+6726T>G | ENSP00000429140.1:n.48+6726T>G | |
| ENST00000522368.5:c.373+48T>G | ||
| ENST00000522394.1:c.122+130T>G | ENSP00000429578.1:n.122+130T>G | |
| ENST00000523957.1:c.*127+48T>G | ENSP00000427830.1:n.*127+48T>G | |
| ENST00000621845.1:c.42+48T>G | ENSP00000484318.1:n.42+48T>G | |
| NM_001172477.1:c.420+48T>G , LRG_788t1:c.420+48T>G | NP_001165948.1:n.420+48T>G | |
| NM_001172478.1:c.49-6067T>G | NP_001165949.1:n.49-6067T>G | |
| NM_015713.4:c.204+48T>G , LRG_788t2:c.204+48T>G | NP_056528.2:n.204+48T>G | |
| NM_001172478.2:c.49-6067T>G | NP_001165949.1:n.49-6067T>G | |
| NM_015713.5:c.204+48T>G MANE Select | NP_056528.2:n.204+48T>G |