Linked Data
ClinVar Variation Id:
2022699
ClinVar RCV Id:
RCV002875668
MyVariant Identifiers:
chr11:g.67223170T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67455699T>G , CM000673.2:g.67455699T>G | GRCh38 |
| NC_000011.9:g.67223170T>G , CM000673.1:g.67223170T>G | GRCh37 |
| NC_000011.8:g.66979746T>G | NCBI36 |
| NG_021211.1:g.5353T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325656.7:c.276T>G MANE Select | ENSP00000324960.5:p.Ser92= | |
| ENST00000325656.6:c.276T>G | ENSP00000324960.5:p.Ser92= | |
| ENST00000438189.6:c.-112-10T>G | ENSP00000401555.2:n.-112-10T>G | |
| ENST00000538060.1:n.561T>G | ||
| ENST00000542025.2:n.673T>G | ||
| ENST00000545777.1:c.276T>G | ENSP00000439145.1:p.Ser92= | |
| NM_001300895.1:c.-108T>G | NP_001287824.1:n.-108T>G | |
| NM_001300896.1:c.-112-10T>G | NP_001287825.1:n.-112-10T>G | |
| NM_145200.3:c.276T>G | NP_660201.1:p.Ser92= | |
| XM_005274114.2:c.336T>G | XP_005274171.2:p.Ser112= | |
| XM_011545181.1:c.336T>G | XP_011543483.1:p.Ser112= | |
| XM_011545182.1:c.336T>G | XP_011543484.1:p.Ser112= | |
| XM_011545183.1:c.-112-10T>G | XP_011543485.1:n.-112-10T>G | |
| XM_011545184.1:c.-122T>G | XP_011543486.1:n.-122T>G | |
| XM_005274114.3:c.336T>G | XP_005274171.2:p.Ser112= | |
| XM_011545181.2:c.336T>G | XP_011543483.1:p.Ser112= | |
| XM_011545182.2:c.336T>G | XP_011543484.1:p.Ser112= | |
| XM_011545183.2:c.-112-10T>G | XP_011543485.1:n.-112-10T>G | |
| XM_017018025.1:c.-122T>G | XP_016873514.1:n.-122T>G | |
| XM_024448615.1:c.276T>G | XP_024304383.1:p.Ser92= | |
| XM_024448616.1:c.-108T>G | XP_024304384.1:n.-108T>G | |
| NM_001300895.2:c.-108T>G | NP_001287824.1:n.-108T>G | |
| NM_001300896.2:c.-112-10T>G | NP_001287825.1:n.-112-10T>G | |
| NM_145200.4:c.276T>G | NP_660201.1:p.Ser92= | |
| NM_001300895.3:c.-108T>G | NP_001287824.1:n.-108T>G | |
| NM_001300896.3:c.-112-10T>G | NP_001287825.1:n.-112-10T>G | |
| NM_001379183.1:c.-122T>G | NP_001366112.1:n.-122T>G | |
| NM_145200.5:c.276T>G MANE Select | NP_660201.1:p.Ser92= | |
| NR_166529.1:n.346T>G |