Linked Data
ClinVar Variation Id:
201126
ClinVar RCV Id:
RCV000182574
RCV000256294
RCV000273530
RCV000600317
RCV001812176
RCV002381593
RCV003148667
dbSNP Id:
rs540796
ExAC:
1:55524197 A / G
gnomAD v2:
1-55524197-A-G
gnomAD v3:
1-55058524-A-G
gnomAD v4:
1-55058524-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55058524A>G , CM000663.2:g.55058524A>G | GRCh38 |
| NC_000001.10:g.55524197A>G , CM000663.1:g.55524197A>G | GRCh37 |
| NC_000001.9:g.55296785A>G | NCBI36 |
| NG_009061.1:g.23978A>G , LRG_275:g.23978A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1380A>G | ENSP00000501161.2:p.Val460= | |
| ENST00000710286.1:c.1737A>G | ENSP00000518176.1:p.Val579= | |
| ENST00000673903.1:c.1005A>G | ENSP00000501257.1:p.Val335= | |
| ENST00000673913.1:c.120A>G | ENSP00000501161.1:p.Val40= | |
| ENST00000302118.5:c.1380A>G MANE Select | ENSP00000303208.5:p.Val460= | |
| ENST00000490692.1:n.2104A>G | ||
| NM_174936.3:c.1380A>G , LRG_275t1:c.1380A>G | NP_777596.2:p.Val460= | |
| NR_110451.1:n.987A>G | ||
| XM_011541193.1:c.501A>G | XP_011539495.1:p.Val167= | |
| NM_174936.4:c.1380A>G MANE Select | NP_777596.2:p.Val460= | |
| NR_110451.2:n.987A>G |