Linked Data
ClinVar Variation Id:
3231440
ClinVar RCV Id:
RCV004525511
dbSNP Id:
rs200370790
ExAC:
2:21233223 G / C
gnomAD v2:
2-21233223-G-C
gnomAD v3:
2-21010351-G-C
gnomAD v4:
2-21010351-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010351G>C , CM000664.2:g.21010351G>C | GRCh38 |
| NC_000002.11:g.21233223G>C , CM000664.1:g.21233223G>C | GRCh37 |
| NC_000002.10:g.21086728G>C | NCBI36 |
| NG_011793.1:g.38723C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6517C>G MANE Select | ENSP00000233242.1:p.Gln2173Glu | |
| ENST00000616098.4:c.6517C>G | ENSP00000477990.1:p.Gln2173Glu | |
| NM_000384.2:c.6517C>G | NP_000375.2:p.Gln2173Glu | |
| XM_011532809.1:c.5869+382C>G | XP_011531111.1:n.5869+382C>G | |
| NM_000384.3:c.6517C>G MANE Select | NP_000375.3:p.Gln2173Glu |