Linked Data
ClinVar Variation Id:
191776
ClinVar RCV Id:
RCV000172109
RCV000198859
RCV000219652
RCV000243459
RCV000622969
RCV000852716
RCV001128398
RCV001128399
RCV001170355
dbSNP Id:
rs146906267
ExAC:
17:37822171 G / C
gnomAD v2:
17-37822171-G-C
gnomAD v3:
17-39665918-G-C
gnomAD v4:
17-39665918-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665918G>C , CM000679.2:g.39665918G>C | GRCh38 |
| NC_000017.10:g.37822171G>C , CM000679.1:g.37822171G>C | GRCh37 |
| NC_000017.9:g.35075697G>C | NCBI36 |
| NG_008892.1:g.5573G>C , LRG_210:g.5573G>C | |
| NG_042278.1:g.2938G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.313G>C MANE Select | ENSP00000312624.2:p.Glu105Gln | |
| ENST00000309889.2:c.313G>C | ENSP00000312624.2:p.Glu105Gln | |
| ENST00000578283.1:c.241G>C | ENSP00000462787.1:p.Glu81Gln | |
| NM_003673.3:c.313G>C , LRG_210t1:c.313G>C | NP_003664.1:p.Glu105Gln | |
| NM_003673.4:c.313G>C MANE Select | NP_003664.1:p.Glu105Gln |