Linked Data
ClinVar Variation Id:
3019691
ClinVar RCV Id:
RCV003874802
gnomAD v4:
11-112230221-A-G
MyVariant Identifiers:
chr11:g.112100944A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112230221A>G , CM000673.2:g.112230221A>G | GRCh38 |
| NC_000011.9:g.112100944A>G , CM000673.1:g.112100944A>G | GRCh37 |
| NC_000011.8:g.111606154A>G | NCBI36 |
| NG_008743.1:g.8857A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280362.8:c.177A>G MANE Select | ENSP00000280362.3:p.Val59= | |
| ENST00000280362.7:c.177A>G | ENSP00000280362.3:p.Val59= | |
| ENST00000524931.1:c.-28A>G | ENSP00000434688.1:n.-28A>G | |
| ENST00000525803.1:c.163+1548A>G | ENSP00000431750.1:n.163+1548A>G | |
| ENST00000528679.5:c.164-405A>G | ENSP00000435895.1:n.164-405A>G | |
| ENST00000531175.1:n.128A>G | ||
| ENST00000531673.5:c.164-405A>G | ENSP00000433469.1:n.164-405A>G | |
| NM_000317.2:c.177A>G | NP_000308.1:p.Val59= | |
| XM_011542943.1:c.138A>G | XP_011541245.1:p.Val46= | |
| NM_000317.3:c.177A>G MANE Select | NP_000308.1:p.Val59= |