Linked Data
ClinVar Variation Id:
313494
dbSNP Id:
rs200319405
ExAC:
14:64453292 T / C
gnomAD v2:
14-64453292-T-C
gnomAD v3:
14-63986574-T-C
gnomAD v4:
14-63986574-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.63986574T>C , CM000676.2:g.63986574T>C | GRCh38 |
| NC_000014.8:g.64453292T>C , CM000676.1:g.64453292T>C | GRCh37 |
| NC_000014.7:g.63523045T>C | NCBI36 |
| NG_011756.1:g.138610T>C | |
| NG_011756.2:g.229676T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555002.6:c.2270T>C MANE Select | ENSP00000450831.2:p.Leu757Ser | |
| ENST00000674003.1:c.2270T>C | ENSP00000501132.1:p.Leu757Ser | |
| ENST00000674144.1:c.2270T>C | ENSP00000501227.1:p.Leu757Ser | |
| ENST00000344113.8:c.2270T>C | ENSP00000341781.4:p.Leu757Ser | |
| ENST00000357395.7:c.2270T>C | ENSP00000349969.4:p.Leu757Ser | |
| ENST00000358025.7:c.2270T>C | ENSP00000350719.3:p.Leu757Ser | |
| ENST00000554584.5:c.2270T>C | ENSP00000452570.1:p.Leu757Ser | |
| NM_015180.4:c.2270T>C | NP_055995.4:p.Leu757Ser | |
| NM_182914.2:c.2270T>C | NP_878918.2:p.Leu757Ser | |
| XM_005267454.1:c.2270T>C | XP_005267511.1:p.Leu757Ser | |
| XM_005267456.1:c.2270T>C | XP_005267513.1:p.Leu757Ser | |
| XM_005267457.1:c.2270T>C | XP_005267514.1:p.Leu757Ser | |
| XM_005267458.1:c.2270T>C | XP_005267515.1:p.Leu757Ser | |
| XM_005267459.1:c.2270T>C | XP_005267516.1:p.Leu757Ser | |
| XM_006720084.2:c.2270T>C | XP_006720147.1:p.Leu757Ser | |
| XM_011536574.1:c.2270T>C | XP_011534876.1:p.Leu757Ser | |
| XM_011536575.1:c.2270T>C | XP_011534877.1:p.Leu757Ser | |
| XM_011536576.1:c.2270T>C | XP_011534878.1:p.Leu757Ser | |
| XM_011536577.1:c.2270T>C | XP_011534879.1:p.Leu757Ser | |
| XM_011536578.1:c.2270T>C | XP_011534880.1:p.Leu757Ser | |
| XM_011536579.1:c.2270T>C | XP_011534881.1:p.Leu757Ser | |
| XM_011536580.1:c.2270T>C | XP_011534882.1:p.Leu757Ser | |
| XM_011536581.1:c.2270T>C | XP_011534883.1:p.Leu757Ser | |
| XM_011536582.1:c.2270T>C | XP_011534884.1:p.Leu757Ser | |
| XM_011536584.1:c.2270T>C | XP_011534886.1:p.Leu757Ser | |
| XM_011536575.2:c.2270T>C | XP_011534877.1:p.Leu757Ser | |
| XM_011536576.2:c.2270T>C | XP_011534878.1:p.Leu757Ser | |
| XM_011536577.2:c.2270T>C | XP_011534879.1:p.Leu757Ser | |
| XM_011536580.2:c.2270T>C | XP_011534882.1:p.Leu757Ser | |
| XM_011536584.2:c.2270T>C | XP_011534886.1:p.Leu757Ser | |
| XM_017021101.1:c.2270T>C | XP_016876590.1:p.Leu757Ser | |
| XM_017021102.1:c.2201T>C | XP_016876591.1:p.Leu734Ser | |
| XR_001750198.1:n.2500T>C | ||
| NM_015180.5:c.2270T>C | NP_055995.4:p.Leu757Ser | |
| NM_015180.6:c.2270T>C | NP_055995.4:p.Leu757Ser | |
| NM_182914.3:c.2270T>C MANE Select | NP_878918.2:p.Leu757Ser |