Linked Data
ClinVar Variation Id:
2897495
ClinVar RCV Id:
RCV003733512
dbSNP Id:
rs2133381079
gnomAD v4:
11-17388059-T-C
MyVariant Identifiers:
chr11:g.17409606T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17388059T>C , CM000673.2:g.17388059T>C | GRCh38 |
| NC_000011.9:g.17409606T>C , CM000673.1:g.17409606T>C | GRCh37 |
| NC_000011.8:g.17366182T>C | NCBI36 |
| NG_012446.1:g.5601A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528992.2:c.-196A>G | ENSP00000436479.2:n.-196A>G | |
| ENST00000682350.1:c.-16-213A>G | ENSP00000508090.1:n.-16-213A>G | |
| ENST00000682764.1:c.-16-213A>G | ENSP00000506780.1:n.-16-213A>G | |
| ENST00000339994.5:c.33A>G MANE Select | ENSP00000345708.4:p.Glu11= | |
| ENST00000339994.4:c.33A>G | ENSP00000345708.4:p.Glu11= | |
| ENST00000526912.1:c.-58A>G | ENSP00000432729.1:n.-58A>G | |
| ENST00000528731.1:c.-16-213A>G | ENSP00000434755.1:n.-16-213A>G | |
| ENST00000528992.1:c.50A>G | ||
| NM_000525.3:c.33A>G | NP_000516.3:p.Glu11= | |
| NM_001166290.1:c.-16-213A>G | NP_001159762.1:n.-16-213A>G | |
| XM_006718226.2:c.-16-213A>G | XP_006718289.1:n.-16-213A>G | |
| XR_930867.1:n.191A>G | ||
| XM_006718226.3:c.-16-213A>G | XP_006718289.1:n.-16-213A>G | |
| XM_017017680.1:c.-16-213A>G | XP_016873169.1:n.-16-213A>G | |
| NM_001166290.2:c.-16-213A>G | NP_001159762.1:n.-16-213A>G | |
| NM_001377296.1:c.-58A>G | NP_001364225.1:n.-58A>G | |
| NM_001377297.1:c.-16-213A>G | NP_001364226.1:n.-16-213A>G | |
| NM_000525.4:c.33A>G MANE Select | NP_000516.3:p.Glu11= |