Linked Data
ClinVar Variation Id:
2942299
ClinVar RCV Id:
RCV003805513
dbSNP Id:
rs934332557
gnomAD v4:
17-39665770-G-C
MyVariant Identifiers:
chr17:g.37822023G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665770G>C , CM000679.2:g.39665770G>C | GRCh38 |
| NC_000017.10:g.37822023G>C , CM000679.1:g.37822023G>C | GRCh37 |
| NC_000017.9:g.35075549G>C | NCBI36 |
| NG_008892.1:g.5425G>C , LRG_210:g.5425G>C | |
| NG_042278.1:g.2790G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.165G>C MANE Select | ENSP00000312624.2:p.Gly55= | |
| ENST00000309889.2:c.165G>C | ENSP00000312624.2:p.Gly55= | |
| ENST00000578283.1:c.165G>C | ENSP00000462787.1:p.Gly55= | |
| NM_003673.3:c.165G>C , LRG_210t1:c.165G>C | NP_003664.1:p.Gly55= | |
| NM_003673.4:c.165G>C MANE Select | NP_003664.1:p.Gly55= |