Linked Data
dbSNP Id:
rs769422822
ExAC:
10:95557091 C / G
gnomAD v2:
10-95557091-C-G
gnomAD v3:
10-93797334-C-G
gnomAD v4:
10-93797334-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93797334C>G , CM000672.2:g.93797334C>G | GRCh38 |
| NC_000010.10:g.95557091C>G , CM000672.1:g.95557091C>G | GRCh37 |
| NC_000010.9:g.95547081C>G | NCBI36 |
| NG_011832.1:g.44526C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371418.9:c.1205C>G MANE Select | ENSP00000360472.4:p.Ser402Cys | |
| ENST00000485458.3:n.5181C>G | ||
| ENST00000635804.1:n.639C>G | ||
| ENST00000635953.1:c.*627C>G | ENSP00000490058.1:n.*627C>G | |
| ENST00000636155.1:c.838+3984C>G | ENSP00000490355.1:n.838+3984C>G | |
| ENST00000636232.1:c.*991C>G | ENSP00000490325.1:n.*991C>G | |
| ENST00000636754.1:c.*1047C>G | ENSP00000489781.1:n.*1047C>G | |
| ENST00000636946.1:c.*1008-415C>G | ENSP00000490654.1:n.*1008-415C>G | |
| ENST00000637037.1:c.*795C>G | ENSP00000490860.1:n.*795C>G | |
| ENST00000637347.1:n.1066C>G | ||
| ENST00000637611.1:c.*761C>G | ENSP00000489682.1:n.*761C>G | |
| ENST00000637689.1:c.-167C>G | ENSP00000490496.1:n.-167C>G | |
| ENST00000637925.1:c.*800C>G | ENSP00000489763.1:n.*800C>G | |
| ENST00000638049.1:c.*963C>G | ENSP00000490597.1:n.*963C>G | |
| ENST00000676175.1:n.2944C>G | ||
| ENST00000371413.4:c.839-415C>G | ENSP00000360467.3:n.839-415C>G | |
| ENST00000371418.8:c.1205C>G | ENSP00000360472.4:p.Ser402Cys | |
| ENST00000626307.1:n.5120C>G | ||
| ENST00000627420.2:c.*914C>G | ENSP00000487116.1:n.*914C>G | |
| ENST00000629035.2:c.1133C>G | ENSP00000486908.1:p.Ser378Cys | |
| ENST00000630047.2:c.1061C>G | ENSP00000485917.1:p.Ser354Cys | |
| NM_001308275.1:c.839-415C>G | NP_001295204.1:n.839-415C>G | |
| NM_001308276.1:c.1061C>G | NP_001295205.1:p.Ser354Cys | |
| NM_005097.2:c.1205C>G | NP_005088.1:p.Ser402Cys | |
| NM_005097.3:c.1205C>G | NP_005088.1:p.Ser402Cys | |
| NR_131777.1:n.1469C>G | ||
| XM_017016912.2:c.695-415C>G | XP_016872401.1:n.695-415C>G | |
| NM_005097.4:c.1205C>G MANE Select | NP_005088.1:p.Ser402Cys | |
| NM_001308275.2:c.839-415C>G | NP_001295204.1:n.839-415C>G | |
| NM_001308276.2:c.1061C>G | NP_001295205.1:p.Ser354Cys | |
| NR_131777.2:n.1342C>G |