Linked Data
ClinVar Variation Id:
389842
ClinVar RCV Id:
RCV000433196
RCV001418759
RCV001158140
RCV001158141
RCV001173276
RCV003970216
RCV002451035
dbSNP Id:
rs527523781
ExAC:
6:110012671 G / C
gnomAD v2:
6-110012671-G-C
gnomAD v3:
6-109691468-G-C
gnomAD v4:
6-109691468-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109691468G>C , CM000668.2:g.109691468G>C | GRCh38 |
| NC_000006.11:g.110012671G>C , CM000668.1:g.110012671G>C | GRCh37 |
| NC_000006.10:g.110119364G>C | NCBI36 |
| NG_007977.1:g.5248G>C , LRG_241:g.5248G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.33G>C MANE Select | ENSP00000230124.4:p.Ser11= | |
| ENST00000368941.2:c.33G>C | ENSP00000357937.2:p.Ser11= | |
| ENST00000415980.2:c.-257G>C | ENSP00000405660.2:n.-257G>C | |
| ENST00000454215.6:c.33G>C | ENSP00000412156.2:p.Ser11= | |
| ENST00000674532.1:n.203G>C | ||
| ENST00000674557.1:c.33G>C | ENSP00000501608.1:p.Ser11= | |
| ENST00000674569.1:c.33G>C | ENSP00000502769.1:p.Ser11= | |
| ENST00000674571.1:c.33G>C | ENSP00000501633.1:p.Ser11= | |
| ENST00000674575.1:c.33G>C | ENSP00000502276.1:p.Ser11= | |
| ENST00000674614.1:n.157G>C | ||
| ENST00000674641.1:c.-90G>C | ENSP00000501609.1:n.-90G>C | |
| ENST00000674644.1:c.-288G>C | ENSP00000502201.1:n.-288G>C | |
| ENST00000674649.1:c.33G>C | ENSP00000501669.1:p.Ser11= | |
| ENST00000674657.1:c.33G>C | ENSP00000502314.1:p.Ser11= | |
| ENST00000674744.1:c.33G>C | ENSP00000501661.1:p.Ser11= | |
| ENST00000674778.1:c.33G>C | ENSP00000502742.1:p.Ser11= | |
| ENST00000674783.1:c.33G>C | ENSP00000502755.1:p.Ser11= | |
| ENST00000674830.1:n.4G>C | ||
| ENST00000674884.1:c.33G>C | ENSP00000502668.1:p.Ser11= | |
| ENST00000674930.1:c.33G>C | ENSP00000502657.1:p.Ser11= | |
| ENST00000674933.1:c.-197G>C | ENSP00000502376.1:n.-197G>C | |
| ENST00000674956.1:c.33G>C | ENSP00000501904.1:p.Ser11= | |
| ENST00000675004.1:c.33G>C | ENSP00000501868.1:p.Ser11= | |
| ENST00000675009.1:c.33G>C | ENSP00000502098.1:p.Ser11= | |
| ENST00000675096.1:c.33G>C | ENSP00000502116.1:p.Ser11= | |
| ENST00000675115.1:n.166G>C | ||
| ENST00000675122.1:c.33G>C | ENSP00000501810.1:p.Ser11= | |
| ENST00000675153.1:c.33G>C | ENSP00000501682.1:p.Ser11= | |
| ENST00000675284.1:c.33G>C | ENSP00000502758.1:p.Ser11= | |
| ENST00000675311.1:c.33G>C | ENSP00000501961.1:p.Ser11= | |
| ENST00000675426.1:c.33G>C | ENSP00000501819.1:p.Ser11= | |
| ENST00000675523.1:c.-197G>C | ENSP00000502384.1:n.-197G>C | |
| ENST00000675552.1:c.33G>C | ENSP00000502197.1:p.Ser11= | |
| ENST00000675606.1:c.-275G>C | ENSP00000501583.1:n.-275G>C | |
| ENST00000675681.1:c.33G>C | ENSP00000502705.1:p.Ser11= | |
| ENST00000675714.1:c.33G>C | ENSP00000502561.1:p.Ser11= | |
| ENST00000675726.1:c.33G>C | ENSP00000502452.1:p.Ser11= | |
| ENST00000675772.1:c.33G>C | ENSP00000501678.1:p.Ser11= | |
| ENST00000675831.1:c.33G>C | ENSP00000502382.1:p.Ser11= | |
| ENST00000675844.1:c.-166+554G>C | ENSP00000502353.1:n.-166+554G>C | |
| ENST00000675847.1:n.157G>C | ||
| ENST00000675887.1:c.33G>C | ENSP00000502123.1:p.Ser11= | |
| ENST00000675973.1:c.33G>C | ENSP00000502407.1:p.Ser11= | |
| ENST00000675991.1:c.33G>C | ENSP00000502162.1:p.Ser11= | |
| ENST00000675994.1:c.33G>C | ENSP00000502419.1:p.Ser11= | |
| ENST00000676021.1:c.33G>C | ENSP00000502746.1:p.Ser11= | |
| ENST00000676037.1:c.33G>C | ENSP00000502181.1:p.Ser11= | |
| ENST00000676136.1:n.173G>C | ||
| ENST00000676435.1:c.33G>C | ENSP00000502614.1:p.Ser11= | |
| ENST00000676442.1:c.33G>C | ENSP00000502595.1:p.Ser11= | |
| ENST00000230124.7:c.33G>C | ENSP00000230124.3:p.Ser11= | |
| NM_014845.5:c.33G>C , LRG_241t1:c.33G>C | NP_055660.1:p.Ser11= | |
| XM_017011591.2:c.33G>C | XP_016867080.1:p.Ser11= | |
| XM_017011592.1:c.-360G>C | XP_016867081.1:n.-360G>C | |
| XM_017011593.2:c.-668G>C | XP_016867082.1:n.-668G>C | |
| NM_014845.6:c.33G>C MANE Select | NP_055660.1:p.Ser11= |