Linked Data
ClinVar Variation Id:
475505
dbSNP Id:
rs772906890
ExAC:
3:47163138 T / C
gnomAD v2:
3-47163138-T-C
gnomAD v3:
3-47121648-T-C
gnomAD v4:
3-47121648-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47121648T>C , CM000665.2:g.47121648T>C | GRCh38 |
| NC_000003.11:g.47163138T>C , CM000665.1:g.47163138T>C | GRCh37 |
| NC_000003.10:g.47138142T>C | NCBI36 |
| NG_032091.1:g.47330A>G , LRG_775:g.47330A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638947.2:c.2856A>G | ENSP00000491413.2:p.Ser952= | |
| ENST00000685005.1:c.2889A>G | ENSP00000509568.1:p.Ser963= | |
| ENST00000685399.1:c.868A>G | ||
| ENST00000685505.1:c.929A>G | ||
| ENST00000686773.1:c.868A>G | ||
| ENST00000686876.1:c.4A>G | ||
| ENST00000688290.1:c.868A>G | ||
| ENST00000690157.1:c.4A>G | ||
| ENST00000690461.1:c.1152A>G | ENSP00000509352.1:p.Ser384= | |
| ENST00000691544.1:c.72-23567A>G | ENSP00000510710.1:n.72-23567A>G | |
| ENST00000691902.1:c.4A>G | ||
| ENST00000692883.1:c.929A>G | ||
| ENST00000693321.1:c.868A>G | ||
| ENST00000409792.4:c.2988A>G MANE Select | ENSP00000386759.3:p.Ser996= | |
| ENST00000330022.11:c.2603A>G | ||
| ENST00000409792.3:c.2988A>G | ENSP00000386759.3:p.Ser996= | |
| ENST00000412450.1:c.2856A>G | ENSP00000416401.1:p.Ser952= | |
| ENST00000431180.5:c.2140A>G | ||
| ENST00000445387.5:c.1888A>G | ||
| NM_014159.6:c.2988A>G , LRG_775t1:c.2988A>G | NP_054878.5:p.Ser996= | |
| XM_011533631.1:c.3066A>G | XP_011531933.1:p.Ser1022= | |
| XM_011533632.1:c.3012A>G | XP_011531934.1:p.Ser1004= | |
| XM_011533633.1:c.3066A>G | XP_011531935.1:p.Ser1022= | |
| XM_011533634.1:c.2856A>G | XP_011531936.1:p.Ser952= | |
| XR_940418.1:n.3081A>G | ||
| XR_940419.1:n.3169A>G | ||
| XR_940420.1:n.3169A>G | ||
| NM_001349370.1:c.2856A>G | NP_001336299.1:p.Ser952= | |
| NR_146158.1:n.3041A>G | ||
| XM_011533632.3:c.3012A>G | XP_011531934.1:p.Ser1004= | |
| XM_024453487.1:c.2856A>G | XP_024309255.1:p.Ser952= | |
| XM_024453488.1:c.2856A>G | XP_024309256.1:p.Ser952= | |
| XM_024453489.1:c.2856A>G | XP_024309257.1:p.Ser952= | |
| XR_001740131.2:n.3041A>G | ||
| XR_002959510.1:n.2917A>G | ||
| XR_002959511.1:n.2917A>G | ||
| XR_002959512.1:n.2917A>G | ||
| XR_002959513.1:n.2917A>G | ||
| XR_002959514.1:n.2917A>G | ||
| XR_002959515.1:n.2917A>G | ||
| XR_002959516.1:n.2917A>G | ||
| XR_002959517.1:n.2917A>G | ||
| NM_001349370.2:c.2856A>G | NP_001336299.1:p.Ser952= | |
| NR_146158.2:n.3177A>G | ||
| NM_001349370.3:c.2856A>G | NP_001336299.1:p.Ser952= | |
| NM_014159.7:c.2988A>G MANE Select | NP_054878.5:p.Ser996= | |
| NR_146158.3:n.3177A>G |