Linked Data
ClinVar Variation Id:
1441277
dbSNP Id:
rs768942598
ExAC:
17:37822245 C / G
gnomAD v2:
17-37822245-C-G
gnomAD v4:
17-39665992-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665992C>G , CM000679.2:g.39665992C>G | GRCh38 |
| NC_000017.10:g.37822245C>G , CM000679.1:g.37822245C>G | GRCh37 |
| NC_000017.9:g.35075771C>G | NCBI36 |
| NG_008892.1:g.5647C>G , LRG_210:g.5647C>G | |
| NG_042278.1:g.3012C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.387C>G MANE Select | ENSP00000312624.2:p.Asp129Glu | |
| ENST00000309889.2:c.387C>G | ENSP00000312624.2:p.Asp129Glu | |
| ENST00000578283.1:c.315C>G | ENSP00000462787.1:p.Asp105Glu | |
| NM_003673.3:c.387C>G , LRG_210t1:c.387C>G | NP_003664.1:p.Asp129Glu | |
| NM_003673.4:c.387C>G MANE Select | NP_003664.1:p.Asp129Glu |