Linked Data
ClinVar Variation Id:
1038232
ClinVar RCV Id:
RCV001341511
dbSNP Id:
rs1755069507
gnomAD v4:
5-149980311-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980311C>G , CM000667.2:g.149980311C>G | GRCh38 |
| NC_000005.9:g.149359874C>G , CM000667.1:g.149359874C>G | GRCh37 |
| NC_000005.8:g.149340067C>G | NCBI36 |
| NG_007147.2:g.21429C>G , LRG_684:g.21429C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.718C>G MANE Select | ENSP00000286298.4:p.Gln240Glu | |
| ENST00000286298.4:c.718C>G | ENSP00000286298.4:p.Gln240Glu | |
| ENST00000503336.1:c.372+1960C>G | ENSP00000426053.1:n.372+1960C>G | |
| NM_000112.3:c.718C>G , LRG_684t1:c.718C>G | NP_000103.2:p.Gln240Glu | |
| XM_017009191.2:c.718C>G | XP_016864680.1:p.Gln240Glu | |
| NM_000112.4:c.718C>G MANE Select | NP_000103.2:p.Gln240Glu |