Linked Data
ClinVar Variation Id:
2987750
ClinVar RCV Id:
RCV003841869
dbSNP Id:
rs1219589747
gnomAD v2:
11-101953829-G-A
gnomAD v4:
11-102083098-G-A
COSMIC:
COSM922210
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102083098G>A , CM000673.2:g.102083098G>A | GRCh38 |
| NC_000011.9:g.101953829G>A , CM000673.1:g.101953829G>A | GRCh37 |
| NC_000011.8:g.101459039G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434758.7:c.703G>A MANE Select | ENSP00000414390.2:p.Ala235Thr | |
| ENST00000434758.6:c.703G>A | ENSP00000414390.2:p.Ala235Thr | |
| ENST00000530659.1:n.940G>A | ||
| NM_032930.2:c.703G>A | NP_116319.2:p.Ala235Thr | |
| XM_005271713.2:c.636G>A | XP_005271770.1:p.Gln212= | |
| XM_006718929.2:c.363G>A | XP_006718992.1:p.Gln121= | |
| NM_001363505.1:c.631G>A | NP_001350434.1:p.Ala211Thr | |
| XM_005271713.4:c.636G>A | XP_005271770.1:p.Gln212= | |
| XM_017018454.1:c.*41G>A | XP_016873943.1:n.*41G>A | |
| NM_032930.3:c.703G>A MANE Select | NP_116319.2:p.Ala235Thr | |
| NM_001363505.2:c.631G>A | NP_001350434.1:p.Ala211Thr |