Linked Data
ClinVar Variation Id:
2878234
ClinVar RCV Id:
RCV003715405
MyVariant Identifiers:
chr11:g.68125256C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68357788C>G , CM000673.2:g.68357788C>G | GRCh38 |
| NC_000011.9:g.68125256C>G , CM000673.1:g.68125256C>G | GRCh37 |
| NC_000011.8:g.67881832C>G | NCBI36 |
| NG_015835.1:g.50149C>G | |
| NG_015835.2:g.50149C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.627C>G MANE Select | ENSP00000294304.6:p.Leu209= | |
| ENST00000294304.11:c.627C>G | ENSP00000294304.6:p.Leu209= | |
| ENST00000529993.5:c.627C>G | ENSP00000436652.1:p.Leu209= | |
| NM_001291902.1:c.-1139C>G | NP_001278831.1:n.-1139C>G | |
| NM_002335.3:c.627C>G | NP_002326.2:p.Leu209= | |
| XM_005273994.2:c.627C>G | XP_005274051.1:p.Leu209= | |
| XM_011545029.1:c.654C>G | XP_011543331.1:p.Leu218= | |
| XM_011545030.1:c.654C>G | XP_011543332.1:p.Leu218= | |
| XM_011545031.1:c.654C>G | XP_011543333.1:p.Leu218= | |
| XR_949925.1:n.669C>G | ||
| XR_949926.1:n.669C>G | ||
| XR_001747874.1:n.669C>G | ||
| XR_949925.2:n.669C>G | ||
| XR_949926.2:n.669C>G | ||
| NM_002335.4:c.627C>G MANE Select | NP_002326.2:p.Leu209= | |
| NM_001291902.2:c.-1139C>G | NP_001278831.1:n.-1139C>G |