Linked Data
ClinVar Variation Id:
2346864
ClinVar RCV Id:
RCV004182367
dbSNP Id:
rs779650469
ExAC:
19:694940 C / G
gnomAD v2:
19-694940-C-G
gnomAD v3:
19-694940-C-G
gnomAD v4:
19-694940-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.694940C>G , CM000681.2:g.694940C>G | GRCh38 |
| NC_000019.9:g.694940C>G , CM000681.1:g.694940C>G | GRCh37 |
| NC_000019.8:g.645940C>G | NCBI36 |
| NG_051189.1:g.5592G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329267.9:c.107G>C MANE Select | ENSP00000327386.6:p.Gly36Ala | |
| ENST00000329267.8:c.107G>C | ENSP00000327386.6:p.Gly36Ala | |
| ENST00000613411.4:c.110G>C | ENSP00000482358.1:p.Gly37Ala | |
| NM_001308209.1:c.107G>C | NP_001295138.1:p.Gly36Ala | |
| NM_214710.3:c.110G>C | NP_999875.1:p.Gly37Ala | |
| NM_214710.4:c.110G>C | NP_999875.1:p.Gly37Ala | |
| NM_001308209.2:c.107G>C MANE Select | NP_001295138.2:p.Gly36Ala | |
| NM_214710.5:c.110G>C | NP_999875.2:p.Gly37Ala |