Linked Data
dbSNP Id:
rs1054531223
gnomAD v2:
3-165547866-C-A
gnomAD v4:
3-165830078-C-A
COSMIC:
COSM350783
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830078C>A , CM000665.2:g.165830078C>A | GRCh38 |
| NC_000003.11:g.165547866C>A , CM000665.1:g.165547866C>A | GRCh37 |
| NC_000003.10:g.167030560C>A | NCBI36 |
| NG_009031.1:g.12388G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.956G>T MANE Select | ENSP00000264381.3:p.Gly319Val | |
| ENST00000264381.7:c.956G>T | ENSP00000264381.3:p.Gly319Val | |
| ENST00000479451.5:c.107+7236G>T | ENSP00000418325.1:n.107+7236G>T | |
| ENST00000482958.1:c.956G>T | ENSP00000419804.1:p.Gly319Val | |
| ENST00000488954.1:c.107+7236G>T | ENSP00000418504.1:n.107+7236G>T | |
| ENST00000497011.5:c.956G>T | ENSP00000419505.1:p.Gly319Val | |
| NM_000055.2:c.956G>T | NP_000046.1:p.Gly319Val | |
| XM_005247685.1:c.1079G>T | XP_005247742.1:p.Gly360Val | |
| NM_000055.3:c.956G>T | NP_000046.1:p.Gly319Val | |
| NR_137635.1:n.159+7236G>T | ||
| NR_137636.1:n.1123G>T | ||
| NM_000055.4:c.956G>T MANE Select | NP_000046.1:p.Gly319Val | |
| NR_137635.2:n.110+7236G>T | ||
| NR_137636.2:n.1074G>T |