Linked Data
ClinVar Variation Id:
931902
ClinVar RCV Id:
RCV001198897
dbSNP Id:
rs772750463
ExAC:
10:95518576 C / T
gnomAD v2:
10-95518576-C-T
gnomAD v3:
10-93758819-C-T
gnomAD v4:
10-93758819-C-T
COSMIC:
COSM3868086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93758819C>T , CM000672.2:g.93758819C>T | GRCh38 |
| NC_000010.10:g.95518576C>T , CM000672.1:g.95518576C>T | GRCh37 |
| NC_000010.9:g.95508566C>T | NCBI36 |
| NG_011832.1:g.6011C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371418.9:c.275C>T MANE Select | ENSP00000360472.4:p.Ser92Leu | |
| ENST00000635953.1:c.275C>T | ENSP00000490058.1:p.Ser92Leu | |
| ENST00000636140.1:n.60C>T | ||
| ENST00000636155.1:c.275C>T | ENSP00000490355.1:p.Ser92Leu | |
| ENST00000636232.1:c.*61C>T | ENSP00000490325.1:n.*61C>T | |
| ENST00000636683.1:n.30C>T | ||
| ENST00000636754.1:c.*65C>T | ENSP00000489781.1:n.*65C>T | |
| ENST00000636946.1:c.275C>T | ENSP00000490654.1:p.Ser92Leu | |
| ENST00000637037.1:c.275C>T | ENSP00000490860.1:p.Ser92Leu | |
| ENST00000637347.1:n.148+131C>T | ||
| ENST00000637611.1:c.275C>T | ENSP00000489682.1:p.Ser92Leu | |
| ENST00000637689.1:c.-1097C>T | ENSP00000490496.1:n.-1097C>T | |
| ENST00000637925.1:c.275C>T | ENSP00000489763.1:p.Ser92Leu | |
| ENST00000638049.1:c.*33C>T | ENSP00000490597.1:n.*33C>T | |
| ENST00000371413.4:c.275C>T | ENSP00000360467.3:p.Ser92Leu | |
| ENST00000371418.8:c.275C>T | ENSP00000360472.4:p.Ser92Leu | |
| ENST00000478763.2:c.275C>T | ENSP00000486517.1:p.Ser92Leu | |
| ENST00000627420.2:c.*65C>T | ENSP00000487116.1:n.*65C>T | |
| ENST00000627699.1:c.*65C>T | ENSP00000485868.1:n.*65C>T | |
| ENST00000629035.2:c.215+460C>T | ENSP00000486908.1:n.215+460C>T | |
| ENST00000630047.2:c.275C>T | ENSP00000485917.1:p.Ser92Leu | |
| ENST00000630184.2:c.275C>T | ENSP00000486607.1:p.Ser92Leu | |
| ENST00000630487.2:c.*65C>T | ENSP00000486859.1:n.*65C>T | |
| NM_001308275.1:c.275C>T | NP_001295204.1:p.Ser92Leu | |
| NM_001308276.1:c.275C>T | NP_001295205.1:p.Ser92Leu | |
| NM_005097.2:c.275C>T | NP_005088.1:p.Ser92Leu | |
| NM_005097.3:c.275C>T | NP_005088.1:p.Ser92Leu | |
| NR_131777.1:n.620C>T | ||
| XM_017016911.2:c.275C>T | XP_016872400.1:p.Ser92Leu | |
| XM_017016912.2:c.275C>T | XP_016872401.1:p.Ser92Leu | |
| NM_005097.4:c.275C>T MANE Select | NP_005088.1:p.Ser92Leu | |
| NM_001308275.2:c.275C>T | NP_001295204.1:p.Ser92Leu | |
| NM_001308276.2:c.275C>T | NP_001295205.1:p.Ser92Leu | |
| NR_131777.2:n.493C>T |