Linked Data
ClinVar Variation Id:
1671927
ClinVar RCV Id:
RCV002199315
dbSNP Id:
rs2134594309
MyVariant Identifiers:
chr11:g.6637968C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616737C>G , CM000673.2:g.6616737C>G | GRCh38 |
| NC_000011.9:g.6637968C>G , CM000673.1:g.6637968C>G | GRCh37 |
| NC_000011.8:g.6594544C>G | NCBI36 |
| NG_008653.1:g.7725G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.696G>C | ENSP00000507321.1:p.Gly232= | |
| ENST00000299427.12:c.810G>C MANE Select | ENSP00000299427.6:p.Gly270= | |
| ENST00000436873.7:c.312+564G>C | ||
| ENST00000524788.2:n.1969G>C | ||
| ENST00000524903.2:n.2085G>C | ||
| ENST00000528807.2:n.466G>C | ||
| ENST00000530040.2:n.480-234G>C | ||
| ENST00000533371.6:c.81G>C | ENSP00000437066.1:p.Gly27= | |
| ENST00000642892.1:c.81G>C | ENSP00000494165.1:p.Gly27= | |
| ENST00000643439.1:c.*550G>C | ENSP00000495849.1:n.*550G>C | |
| ENST00000643479.1:n.839G>C | ||
| ENST00000643516.1:c.396-234G>C | ||
| ENST00000644151.1:n.2249G>C | ||
| ENST00000644218.1:c.810G>C | ENSP00000493574.1:p.Gly270= | |
| ENST00000644683.1:c.*263G>C | ENSP00000494085.1:n.*263G>C | |
| ENST00000644810.1:c.531G>C | ENSP00000495895.1:p.Gly177= | |
| ENST00000644831.1:n.986G>C | ||
| ENST00000644933.1:c.81G>C | ENSP00000496133.1:p.Gly27= | |
| ENST00000645020.1:n.2100G>C | ||
| ENST00000645285.1:c.81G>C | ENSP00000495058.1:p.Gly27= | |
| ENST00000645331.1:n.1176G>C | ||
| ENST00000645620.1:c.81G>C | ENSP00000493657.1:p.Gly27= | |
| ENST00000646777.1:n.986G>C | ||
| ENST00000647016.1:n.1290G>C | ||
| ENST00000647152.1:c.81G>C | ENSP00000495893.1:p.Gly27= | |
| ENST00000647209.1:c.*679G>C | ENSP00000495558.1:n.*679G>C | |
| ENST00000647346.1:n.1830G>C | ||
| ENST00000299427.10:c.810G>C | ENSP00000299427.6:p.Gly270= | |
| ENST00000436873.6:c.451-234G>C | ENSP00000398136.2:n.451-234G>C | |
| ENST00000524788.1:n.510G>C | ||
| ENST00000528807.1:n.360G>C | ||
| ENST00000533371.5:c.81G>C | ENSP00000437066.1:p.Gly27= | |
| ENST00000611494.4:c.810G>C | ENSP00000484546.1:p.Gly270= | |
| NM_000391.3:c.810G>C | NP_000382.3:p.Gly270= | |
| NM_000391.4:c.810G>C MANE Select | NP_000382.3:p.Gly270= |