Linked Data
ClinVar Variation Id:
355049
dbSNP Id:
rs140055056
ExAC:
6:110146312 G / T
gnomAD v2:
6-110146312-G-T
gnomAD v3:
6-109825109-G-T
gnomAD v4:
6-109825109-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109825109G>T , CM000668.2:g.109825109G>T | GRCh38 |
| NC_000006.11:g.110146312G>T , CM000668.1:g.110146312G>T | GRCh37 |
| NC_000006.10:g.110253005G>T | NCBI36 |
| NG_007977.1:g.138889G>T , LRG_241:g.138889G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.2568G>T MANE Select | ENSP00000230124.4:p.Ser856= | |
| ENST00000415980.2:c.1074G>T | ENSP00000405660.2:p.Ser358= | |
| ENST00000674532.1:n.5764G>T | ||
| ENST00000674557.1:c.*1861G>T | ENSP00000501608.1:n.*1861G>T | |
| ENST00000674569.1:c.*1687G>T | ENSP00000502769.1:n.*1687G>T | |
| ENST00000674571.1:c.*1712G>T | ENSP00000501633.1:n.*1712G>T | |
| ENST00000674573.1:n.1000G>T | ||
| ENST00000674575.1:c.*1687G>T | ENSP00000502276.1:n.*1687G>T | |
| ENST00000674641.1:c.2223G>T | ENSP00000501609.1:p.Ser741= | |
| ENST00000674649.1:c.*2261G>T | ENSP00000501669.1:n.*2261G>T | |
| ENST00000674657.1:c.*2000G>T | ENSP00000502314.1:n.*2000G>T | |
| ENST00000674744.1:c.2562G>T | ENSP00000501661.1:p.Ser854= | |
| ENST00000674778.1:c.*1786G>T | ENSP00000502742.1:n.*1786G>T | |
| ENST00000674783.1:c.*1483G>T | ENSP00000502755.1:n.*1483G>T | |
| ENST00000674884.1:c.2586G>T | ENSP00000502668.1:p.Ser862= | |
| ENST00000674930.1:c.*1606G>T | ENSP00000502657.1:n.*1606G>T | |
| ENST00000674933.1:c.2250G>T | ENSP00000502376.1:p.Ser750= | |
| ENST00000674956.1:c.*1782G>T | ENSP00000501904.1:n.*1782G>T | |
| ENST00000675004.1:c.*2433G>T | ENSP00000501868.1:n.*2433G>T | |
| ENST00000675009.1:c.*1952G>T | ENSP00000502098.1:n.*1952G>T | |
| ENST00000675096.1:c.2361G>T | ENSP00000502116.1:p.Ser787= | |
| ENST00000675122.1:c.*675G>T | ENSP00000501810.1:n.*675G>T | |
| ENST00000675153.1:c.*1285G>T | ENSP00000501682.1:n.*1285G>T | |
| ENST00000675272.1:n.6866G>T | ||
| ENST00000675301.1:n.1225G>T | ||
| ENST00000675311.1:c.*1770G>T | ENSP00000501961.1:n.*1770G>T | |
| ENST00000675426.1:c.*1636G>T | ENSP00000501819.1:n.*1636G>T | |
| ENST00000675523.1:c.2337G>T | ENSP00000502384.1:p.Ser779= | |
| ENST00000675552.1:c.*4831G>T | ENSP00000502197.1:n.*4831G>T | |
| ENST00000675726.1:c.2481G>T | ENSP00000502452.1:p.Ser827= | |
| ENST00000675772.1:c.2546+28258G>T | ENSP00000501678.1:n.2546+28258G>T | |
| ENST00000675831.1:c.2175G>T | ENSP00000502382.1:p.Ser725= | |
| ENST00000675849.1:n.2190G>T | ||
| ENST00000675879.1:c.1413G>T | ||
| ENST00000675954.1:n.3901G>T | ||
| ENST00000675991.1:c.*4395G>T | ENSP00000502162.1:n.*4395G>T | |
| ENST00000675994.1:c.*1707G>T | ENSP00000502419.1:n.*1707G>T | |
| ENST00000676021.1:c.*1146G>T | ENSP00000502746.1:n.*1146G>T | |
| ENST00000676037.1:c.*495G>T | ENSP00000502181.1:n.*495G>T | |
| ENST00000676136.1:n.5215G>T | ||
| ENST00000676442.1:c.2439G>T | ENSP00000502595.1:p.Ser813= | |
| ENST00000230124.7:c.2568G>T | ENSP00000230124.3:p.Ser856= | |
| NM_014845.5:c.2568G>T , LRG_241t1:c.2568G>T | NP_055660.1:p.Ser856= | |
| XM_011536281.1:c.2505G>T | XP_011534583.1:p.Ser835= | |
| XM_011536281.3:c.2505G>T | XP_011534583.1:p.Ser835= | |
| XM_017011592.1:c.2019G>T | XP_016867081.1:p.Ser673= | |
| XM_017011593.2:c.1638G>T | XP_016867082.1:p.Ser546= | |
| NM_014845.6:c.2568G>T MANE Select | NP_055660.1:p.Ser856= |