Linked Data
dbSNP Id:
rs572611634
ExAC:
8:103231222 T / C
gnomAD v2:
8-103231222-T-C
gnomAD v3:
8-102218994-T-C
gnomAD v4:
8-102218994-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102218994T>C , CM000670.2:g.102218994T>C | GRCh38 |
| NC_000008.10:g.103231222T>C , CM000670.1:g.103231222T>C | GRCh37 |
| NC_000008.9:g.103300398T>C | NCBI36 |
| NG_016617.1:g.25125A>G , LRG_788:g.25125A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.551-47A>G MANE Select | ENSP00000251810.3:n.551-47A>G | |
| ENST00000251810.7:c.551-47A>G | ENSP00000251810.3:n.551-47A>G | |
| ENST00000395912.6:c.395-47A>G | ENSP00000379248.2:n.395-47A>G | |
| ENST00000519125.1:n.22A>G | ||
| ENST00000519317.5:c.49-4836A>G | ENSP00000430641.1:n.49-4836A>G | |
| ENST00000519962.5:c.49-10709A>G | ENSP00000429140.1:n.49-10709A>G | |
| ENST00000522368.5:c.720-47A>G | ||
| ENST00000522394.1:c.123-6105A>G | ENSP00000429578.1:n.123-6105A>G | |
| ENST00000621845.1:c.389-47A>G | ENSP00000484318.1:n.389-47A>G | |
| NM_001172477.1:c.767-47A>G , LRG_788t1:c.767-47A>G | NP_001165948.1:n.767-47A>G | |
| NM_001172478.1:c.395-47A>G | NP_001165949.1:n.395-47A>G | |
| NM_015713.4:c.551-47A>G , LRG_788t2:c.551-47A>G | NP_056528.2:n.551-47A>G | |
| NM_001172478.2:c.395-47A>G | NP_001165949.1:n.395-47A>G | |
| NM_015713.5:c.551-47A>G MANE Select | NP_056528.2:n.551-47A>G |