Linked Data
dbSNP Id:
rs756893244
ExAC:
8:103220461 C / G
gnomAD v2:
8-103220461-C-G
gnomAD v4:
8-102208233-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102208233C>G , CM000670.2:g.102208233C>G | GRCh38 |
| NC_000008.10:g.103220461C>G , CM000670.1:g.103220461C>G | GRCh37 |
| NC_000008.9:g.103289637C>G | NCBI36 |
| NG_016617.1:g.35886G>C , LRG_788:g.35886G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.956G>C MANE Select | ENSP00000251810.3:p.Gly319Ala | |
| ENST00000251810.7:c.956G>C | ENSP00000251810.3:p.Gly319Ala | |
| ENST00000395910.6:n.343G>C | ||
| ENST00000395912.6:c.800G>C | ENSP00000379248.2:p.Gly267Ala | |
| ENST00000519317.5:c.320G>C | ENSP00000430641.1:p.Gly107Ala | |
| ENST00000519962.5:c.101G>C | ENSP00000429140.1:p.Gly34Ala | |
| ENST00000522368.5:c.1125G>C | ||
| ENST00000522394.1:c.289G>C | ENSP00000429578.1:n.289G>C | |
| ENST00000621845.1:c.794G>C | ENSP00000484318.1:p.Gly265Ala | |
| NM_001172477.1:c.1172G>C , LRG_788t1:c.1172G>C | NP_001165948.1:p.Gly391Ala | |
| NM_001172478.1:c.800G>C | NP_001165949.1:p.Gly267Ala | |
| NM_015713.4:c.956G>C , LRG_788t2:c.956G>C | NP_056528.2:p.Gly319Ala | |
| NM_001172478.2:c.800G>C | NP_001165949.1:p.Gly267Ala | |
| NM_015713.5:c.956G>C MANE Select | NP_056528.2:p.Gly319Ala |