Linked Data
ClinVar Variation Id:
1022422
ClinVar RCV Id:
RCV001322328
dbSNP Id:
rs1845755979
gnomAD v4:
11-1753637-C-T
COSMIC:
COSM3808895
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753637C>T , CM000673.2:g.1753637C>T | GRCh38 |
| NC_000011.9:g.1774867C>T , CM000673.1:g.1774867C>T | GRCh37 |
| NC_000011.8:g.1731443C>T | NCBI36 |
| NG_008655.1:g.15356G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1105G>A MANE Select | ENSP00000236671.2:p.Gly369Ser | |
| ENST00000367196.4:c.1000G>A | ENSP00000356164.4:p.Gly334Ser | |
| ENST00000427721.3:c.530G>A | ||
| ENST00000429746.2:c.1000G>A | ENSP00000402586.2:p.Gly334Ser | |
| ENST00000433655.6:c.*271G>A | ENSP00000404902.1:n.*271G>A | |
| ENST00000438213.6:c.1222G>A | ENSP00000415036.2:p.Gly408Ser | |
| ENST00000636397.1:c.1071+166G>A | ENSP00000489910.1:n.1071+166G>A | |
| ENST00000636571.1:c.1084G>A | ENSP00000490770.1:p.Gly362Ser | |
| ENST00000636579.1:c.72+166G>A | ENSP00000490489.1:n.72+166G>A | |
| ENST00000636615.1:c.1071+166G>A | ENSP00000490014.1:n.1071+166G>A | |
| ENST00000636843.1:c.1099G>A | ENSP00000490897.1:p.Gly367Ser | |
| ENST00000637158.1:n.703G>A | ||
| ENST00000637381.2:n.3533G>A | ||
| ENST00000637387.1:c.1084G>A | ENSP00000490598.1:p.Gly362Ser | |
| ENST00000637815.2:c.1087G>A | ENSP00000490344.1:p.Gly363Ser | |
| ENST00000637915.1:c.1096G>A | ENSP00000490471.1:p.Gly366Ser | |
| ENST00000637937.1:n.413G>A | ||
| ENST00000678991.1:c.*966G>A | ENSP00000503019.1:n.*966G>A | |
| ENST00000236671.6:c.1105G>A | ENSP00000236671.2:p.Gly369Ser | |
| ENST00000427721.2:c.471+166G>A | ENSP00000415840.2:n.471+166G>A | |
| ENST00000429746.1:c.436G>A | ENSP00000402586.1:p.Gly146Ser | |
| ENST00000433655.5:c.*271G>A | ENSP00000404902.1:n.*271G>A | |
| NM_001909.4:c.1105G>A | NP_001900.1:p.Gly369Ser | |
| NM_001909.5:c.1105G>A MANE Select | NP_001900.1:p.Gly369Ser |