Linked Data
ClinVar Variation Id:
2401105
ClinVar RCV Id:
RCV004240663
dbSNP Id:
rs907856910
gnomAD v2:
19-13051577-A-G
gnomAD v3:
19-12940763-A-G
gnomAD v4:
19-12940763-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12940763A>G , CM000681.2:g.12940763A>G | GRCh38 |
| NC_000019.9:g.13051577A>G , CM000681.1:g.13051577A>G | GRCh37 |
| NC_000019.8:g.12912577A>G | NCBI36 |
| NG_029662.1:g.7164A>G , LRG_828:g.7164A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316448.10:c.836A>G MANE Select | ENSP00000320866.4:p.Gln279Arg | |
| ENST00000586760.2:c.836A>G | ENSP00000465918.2:p.Gln279Arg | |
| ENST00000586967.2:c.836A>G | ENSP00000466037.2:p.Gln279Arg | |
| ENST00000588454.6:c.632A>G | ENSP00000465105.2:p.Gln211Arg | |
| ENST00000680816.1:c.836A>G | ENSP00000504963.1:p.Gln279Arg | |
| ENST00000316448.9:c.836A>G | ENSP00000320866.4:p.Gln279Arg | |
| ENST00000586760.1:c.190A>G | ||
| ENST00000588454.5:c.632A>G | ENSP00000465105.1:p.Gln211Arg | |
| NM_004343.3:c.836A>G , LRG_828t1:c.836A>G | NP_004334.1:p.Gln279Arg | |
| NM_004343.4:c.836A>G MANE Select | NP_004334.1:p.Gln279Arg |