Linked Data
ClinVar Variation Id:
288969
ClinVar RCV Id:
RCV000554666
RCV001128397
RCV003330626
RCV003338508
RCV001128396
RCV002494882
RCV000262261
dbSNP Id:
rs146906267
ExAC:
17:37822171 G / A
gnomAD v2:
17-37822171-G-A
gnomAD v3:
17-39665918-G-A
gnomAD v4:
17-39665918-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665918G>A , CM000679.2:g.39665918G>A | GRCh38 |
| NC_000017.10:g.37822171G>A , CM000679.1:g.37822171G>A | GRCh37 |
| NC_000017.9:g.35075697G>A | NCBI36 |
| NG_008892.1:g.5573G>A , LRG_210:g.5573G>A | |
| NG_042278.1:g.2938G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.313G>A MANE Select | ENSP00000312624.2:p.Glu105Lys | |
| ENST00000309889.2:c.313G>A | ENSP00000312624.2:p.Glu105Lys | |
| ENST00000578283.1:c.241G>A | ENSP00000462787.1:p.Glu81Lys | |
| NM_003673.3:c.313G>A , LRG_210t1:c.313G>A | NP_003664.1:p.Glu105Lys | |
| NM_003673.4:c.313G>A MANE Select | NP_003664.1:p.Glu105Lys |