Linked Data
ClinVar Variation Id:
2888119
ClinVar RCV Id:
RCV003724704
dbSNP Id:
rs1329190065
gnomAD v2:
12-49579219-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49185436A>C , CM000674.2:g.49185436A>C | GRCh38 |
| NC_000012.11:g.49579219A>C , CM000674.1:g.49579219A>C | GRCh37 |
| NC_000012.10:g.47865486A>C | NCBI36 |
| NG_008966.1:g.8643T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.930T>G MANE Select | ENSP00000301071.7:p.Gly310= | |
| ENST00000547939.6:c.825T>G | ENSP00000450268.2:p.Gly275= | |
| ENST00000550767.6:c.825T>G | ENSP00000446637.1:p.Gly275= | |
| ENST00000550811.2:n.1963T>G | ||
| ENST00000552924.2:c.825T>G | ENSP00000448725.2:p.Gly275= | |
| ENST00000679733.1:c.*386T>G | ENSP00000505459.1:n.*386T>G | |
| ENST00000295766.9:c.930T>G | ENSP00000439020.2:p.Gly310= | |
| ENST00000301071.11:c.930T>G | ENSP00000301071.7:p.Gly310= | |
| ENST00000550767.5:c.825T>G | ENSP00000446637.1:p.Gly275= | |
| NM_001270399.1:c.930T>G | NP_001257328.1:p.Gly310= | |
| NM_001270400.1:c.825T>G | NP_001257329.1:p.Gly275= | |
| NM_006009.3:c.930T>G | NP_006000.2:p.Gly310= | |
| NM_006009.4:c.930T>G MANE Select | NP_006000.2:p.Gly310= | |
| NM_001270399.2:c.930T>G | NP_001257328.1:p.Gly310= | |
| NM_001270400.2:c.825T>G | NP_001257329.1:p.Gly275= |