Linked Data
ClinVar Variation Id:
1155584
ClinVar RCV Id:
RCV001497930
dbSNP Id:
rs772083153
ExAC:
17:37822260 T / G
gnomAD v2:
17-37822260-T-G
gnomAD v3:
17-39666007-T-G
gnomAD v4:
17-39666007-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39666007T>G , CM000679.2:g.39666007T>G | GRCh38 |
| NC_000017.10:g.37822260T>G , CM000679.1:g.37822260T>G | GRCh37 |
| NC_000017.9:g.35075786T>G | NCBI36 |
| NG_008892.1:g.5662T>G , LRG_210:g.5662T>G | |
| NG_042278.1:g.3027T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.402T>G MANE Select | ENSP00000312624.2:p.Ala134= | |
| ENST00000309889.2:c.402T>G | ENSP00000312624.2:p.Ala134= | |
| ENST00000578283.1:c.330T>G | ENSP00000462787.1:p.Ala110= | |
| NM_003673.3:c.402T>G , LRG_210t1:c.402T>G | NP_003664.1:p.Ala134= | |
| NM_003673.4:c.402T>G MANE Select | NP_003664.1:p.Ala134= |