Linked Data
ClinVar Variation Id:
1056900
ClinVar RCV Id:
RCV001365795
dbSNP Id:
rs545364302
ExAC:
11:1774896 G / A
gnomAD v2:
11-1774896-G-A
gnomAD v3:
11-1753666-G-A
gnomAD v4:
11-1753666-G-A
COSMIC:
COSM5809216
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753666G>A , CM000673.2:g.1753666G>A | GRCh38 |
| NC_000011.9:g.1774896G>A , CM000673.1:g.1774896G>A | GRCh37 |
| NC_000011.8:g.1731472G>A | NCBI36 |
| NG_008655.1:g.15327C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1076C>T MANE Select | ENSP00000236671.2:p.Ser359Leu | |
| ENST00000367196.4:c.971C>T | ENSP00000356164.4:p.Ser324Leu | |
| ENST00000427721.3:c.501C>T | ||
| ENST00000429746.2:c.971C>T | ENSP00000402586.2:p.Ser324Leu | |
| ENST00000433655.6:c.*242C>T | ENSP00000404902.1:n.*242C>T | |
| ENST00000438213.6:c.1193C>T | ENSP00000415036.2:p.Ser398Leu | |
| ENST00000497544.3:n.784C>T | ||
| ENST00000636397.1:c.1071+137C>T | ENSP00000489910.1:n.1071+137C>T | |
| ENST00000636571.1:c.1055C>T | ENSP00000490770.1:p.Ser352Leu | |
| ENST00000636579.1:c.72+137C>T | ENSP00000490489.1:n.72+137C>T | |
| ENST00000636615.1:c.1071+137C>T | ENSP00000490014.1:n.1071+137C>T | |
| ENST00000636843.1:c.1070C>T | ENSP00000490897.1:p.Ser357Leu | |
| ENST00000637158.1:n.674C>T | ||
| ENST00000637381.2:n.3504C>T | ||
| ENST00000637387.1:c.1055C>T | ENSP00000490598.1:p.Ser352Leu | |
| ENST00000637815.2:c.1058C>T | ENSP00000490344.1:p.Ser353Leu | |
| ENST00000637915.1:c.1072-5C>T | ENSP00000490471.1:n.1072-5C>T | |
| ENST00000637937.1:n.384C>T | ||
| ENST00000678991.1:c.*937C>T | ENSP00000503019.1:n.*937C>T | |
| ENST00000236671.6:c.1076C>T | ENSP00000236671.2:p.Ser359Leu | |
| ENST00000427721.2:c.471+137C>T | ENSP00000415840.2:n.471+137C>T | |
| ENST00000429746.1:c.407C>T | ENSP00000402586.1:p.Ser136Leu | |
| ENST00000433655.5:c.*242C>T | ENSP00000404902.1:n.*242C>T | |
| NM_001909.4:c.1076C>T | NP_001900.1:p.Ser359Leu | |
| NM_001909.5:c.1076C>T MANE Select | NP_001900.1:p.Ser359Leu |