Linked Data
ClinVar Variation Id:
3163843
ClinVar RCV Id:
RCV004456660
dbSNP Id:
rs1581230719
gnomAD v4:
5-149977942-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977942A>G , CM000667.2:g.149977942A>G | GRCh38 |
| NC_000005.9:g.149357505A>G , CM000667.1:g.149357505A>G | GRCh37 |
| NC_000005.8:g.149337698A>G | NCBI36 |
| NG_007147.2:g.19060A>G , LRG_684:g.19060A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.522A>G | ||
| ENST00000286298.5:c.290A>G MANE Select | ENSP00000286298.4:p.Gln97Arg | |
| ENST00000286298.4:c.290A>G | ENSP00000286298.4:p.Gln97Arg | |
| NM_000112.3:c.290A>G , LRG_684t1:c.290A>G | NP_000103.2:p.Gln97Arg | |
| XM_017009191.2:c.290A>G | XP_016864680.1:p.Gln97Arg | |
| NM_000112.4:c.290A>G MANE Select | NP_000103.2:p.Gln97Arg |