Linked Data
ClinVar Variation Id:
128872
ClinVar RCV Id:
RCV002312083
dbSNP Id:
rs138733377
ExAC:
11:1774757 G / T
gnomAD v2:
11-1774757-G-T
gnomAD v3:
11-1753527-G-T
gnomAD v4:
11-1753527-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753527G>T , CM000673.2:g.1753527G>T | GRCh38 |
| NC_000011.9:g.1774757G>T , CM000673.1:g.1774757G>T | GRCh37 |
| NC_000011.8:g.1731333G>T | NCBI36 |
| NG_008655.1:g.15466C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236671.7:c.1215C>A MANE Select | ENSP00000236671.2:p.Gly405= | |
| ENST00000367196.4:c.1110C>A | ENSP00000356164.4:p.Gly370= | |
| ENST00000427721.3:c.634+6C>A | ||
| ENST00000429746.2:c.1110C>A | ENSP00000402586.2:p.Gly370= | |
| ENST00000433655.6:c.*381C>A | ENSP00000404902.1:n.*381C>A | |
| ENST00000438213.6:c.1332C>A | ENSP00000415036.2:p.Gly444= | |
| ENST00000636397.1:c.1071+276C>A | ENSP00000489910.1:n.1071+276C>A | |
| ENST00000636571.1:c.1194C>A | ENSP00000490770.1:p.Gly398= | |
| ENST00000636579.1:c.72+276C>A | ENSP00000490489.1:n.72+276C>A | |
| ENST00000636615.1:c.1071+276C>A | ENSP00000490014.1:n.1071+276C>A | |
| ENST00000636843.1:c.1209C>A | ENSP00000490897.1:p.Gly403= | |
| ENST00000637158.1:n.813C>A | ||
| ENST00000637381.2:n.3643C>A | ||
| ENST00000637387.1:c.1194C>A | ENSP00000490598.1:p.Gly398= | |
| ENST00000637815.2:c.1197C>A | ENSP00000490344.1:p.Gly399= | |
| ENST00000637915.1:c.1206C>A | ENSP00000490471.1:p.Gly402= | |
| ENST00000637937.1:n.523C>A | ||
| ENST00000678991.1:c.*1076C>A | ENSP00000503019.1:n.*1076C>A | |
| ENST00000236671.6:c.1215C>A | ENSP00000236671.2:p.Gly405= | |
| ENST00000427721.2:c.471+276C>A | ENSP00000415840.2:n.471+276C>A | |
| ENST00000429746.1:c.546C>A | ENSP00000402586.1:p.Gly182= | |
| ENST00000433655.5:c.*381C>A | ENSP00000404902.1:n.*381C>A | |
| NM_001909.4:c.1215C>A | NP_001900.1:p.Gly405= | |
| NM_001909.5:c.1215C>A MANE Select | NP_001900.1:p.Gly405= |