Linked Data
ClinVar Variation Id:
285811
dbSNP Id:
rs142690727
ExAC:
6:152464892 T / C
gnomAD v2:
6-152464892-T-C
gnomAD v3:
6-152143757-T-C
gnomAD v4:
6-152143757-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152143757T>C , CM000668.2:g.152143757T>C | GRCh38 |
| NC_000006.11:g.152464892T>C , CM000668.1:g.152464892T>C | GRCh37 |
| NC_000006.10:g.152506585T>C | NCBI36 |
| NG_012855.1:g.498643A>G | |
| NG_012855.2:g.498643A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1519A>G MANE Plus Clinical | ENSP00000346701.4:p.Ser507Gly | |
| ENST00000367255.10:c.24985A>G MANE Select | ENSP00000356224.5:p.Ser8329Gly | |
| ENST00000423061.6:c.24841A>G | ENSP00000396024.1:p.Ser8281Gly | |
| ENST00000672154.1:c.387A>G | ||
| ENST00000672169.1:c.720A>G | ||
| ENST00000673173.1:c.891-3596A>G | ||
| ENST00000673451.1:c.757A>G | ENSP00000500189.1:p.Ser253Gly | |
| ENST00000341594.9:c.23770A>G | ENSP00000341887.6:p.Ser7924Gly | |
| ENST00000347037.9:n.1733A>G | ||
| ENST00000354674.4:c.1519A>G | ENSP00000346701.4:p.Ser507Gly | |
| ENST00000367251.7:c.3820A>G | ENSP00000356220.3:p.Ser1274Gly | |
| ENST00000367255.9:c.24985A>G | ENSP00000356224.5:p.Ser8329Gly | |
| ENST00000367256.9:n.8677A>G | ||
| ENST00000367257.8:c.2923A>G | ENSP00000356226.4:p.Ser975Gly | |
| ENST00000409694.6:n.8569A>G | ||
| ENST00000423061.5:c.24841A>G | ENSP00000396024.1:p.Ser8281Gly | |
| ENST00000460912.6:n.1599A>G | ||
| ENST00000478916.5:n.4007A>G | ||
| ENST00000536990.5:n.1822A>G | ||
| ENST00000539504.5:c.1450A>G | ENSP00000441052.1:p.Ser484Gly | |
| NM_033071.3:c.24841A>G | NP_149062.1:p.Ser8281Gly | |
| NM_182961.3:c.24985A>G | NP_892006.3:p.Ser8329Gly | |
| XM_006715407.1:c.25090A>G | XP_006715470.1:p.Ser8364Gly | |
| XM_006715408.1:c.25078A>G | XP_006715471.1:p.Ser8360Gly | |
| XM_006715409.1:c.25069A>G | XP_006715472.1:p.Ser8357Gly | |
| XM_006715410.1:c.25090A>G | XP_006715473.1:p.Ser8364Gly | |
| XM_006715411.1:c.25039A>G | XP_006715474.1:p.Ser8347Gly | |
| XM_006715412.1:c.25075A>G | XP_006715475.1:p.Ser8359Gly | |
| XM_006715413.1:c.25021A>G | XP_006715476.1:p.Ser8341Gly | |
| XM_006715414.1:c.25018A>G | XP_006715477.1:p.Ser8340Gly | |
| XM_006715415.1:c.25021A>G | XP_006715478.1:p.Ser8341Gly | |
| XM_006715416.1:c.25006A>G | XP_006715479.1:p.Ser8336Gly | |
| XM_006715417.1:c.24949A>G | XP_006715480.1:p.Ser8317Gly | |
| XM_006715420.1:c.24937A>G | XP_006715483.1:p.Ser8313Gly | |
| XM_006715421.1:c.24934A>G | XP_006715484.1:p.Ser8312Gly | |
| XM_006715422.1:c.24931A>G | XP_006715485.1:p.Ser8311Gly | |
| XM_006715423.1:c.25090A>G | XP_006715486.1:p.Ser8364Gly | |
| XM_006715424.1:c.25090A>G | XP_006715487.1:p.Ser8364Gly | |
| XM_006715425.1:c.25021A>G | XP_006715488.1:p.Ser8341Gly | |
| XM_011535641.1:c.25087A>G | XP_011533943.1:p.Ser8363Gly | |
| XM_011535642.1:c.25075A>G | XP_011533944.1:p.Ser8359Gly | |
| XM_011535643.1:c.24925A>G | XP_011533945.1:p.Ser8309Gly | |
| XM_011535644.1:c.23365A>G | XP_011533946.1:p.Ser7789Gly | |
| XM_011535645.1:c.22858A>G | XP_011533947.1:p.Ser7620Gly | |
| XM_011535647.1:c.18325A>G | XP_011533949.1:p.Ser6109Gly | |
| NM_001347701.1:c.1591A>G | NP_001334630.1:p.Ser531Gly | |
| NM_001347702.1:c.1519A>G | NP_001334631.1:p.Ser507Gly | |
| XM_006715408.2:c.25078A>G | XP_006715471.1:p.Ser8360Gly | |
| XM_006715410.2:c.25090A>G | XP_006715473.1:p.Ser8364Gly | |
| XM_006715412.2:c.25075A>G | XP_006715475.1:p.Ser8359Gly | |
| XM_006715413.2:c.25021A>G | XP_006715476.1:p.Ser8341Gly | |
| XM_006715415.2:c.25021A>G | XP_006715478.1:p.Ser8341Gly | |
| XM_006715416.2:c.25006A>G | XP_006715479.1:p.Ser8336Gly | |
| XM_006715417.2:c.24949A>G | XP_006715480.1:p.Ser8317Gly | |
| XM_006715420.2:c.24937A>G | XP_006715483.1:p.Ser8313Gly | |
| XM_006715421.2:c.24934A>G | XP_006715484.1:p.Ser8312Gly | |
| XM_006715423.2:c.25090A>G | XP_006715486.1:p.Ser8364Gly | |
| XM_006715424.2:c.25090A>G | XP_006715487.1:p.Ser8364Gly | |
| XM_006715425.2:c.25021A>G | XP_006715488.1:p.Ser8341Gly | |
| XM_011535641.2:c.25087A>G | XP_011533943.1:p.Ser8363Gly | |
| XM_011535642.2:c.25075A>G | XP_011533944.1:p.Ser8359Gly | |
| XM_011535645.2:c.22858A>G | XP_011533947.1:p.Ser7620Gly | |
| XM_017010608.1:c.25090A>G | XP_016866097.1:p.Ser8364Gly | |
| XM_017010609.1:c.25090A>G | XP_016866098.1:p.Ser8364Gly | |
| XM_017010610.1:c.25069A>G | XP_016866099.1:p.Ser8357Gly | |
| XM_017010611.2:c.25063A>G | XP_016866100.1:p.Ser8355Gly | |
| XM_017010612.1:c.25012A>G | XP_016866101.1:p.Ser8338Gly | |
| XM_017010613.1:c.25018A>G | XP_016866102.1:p.Ser8340Gly | |
| XM_017010614.1:c.24934A>G | XP_016866103.1:p.Ser8312Gly | |
| XM_017010615.1:c.24865A>G | XP_016866104.1:p.Ser8289Gly | |
| XM_017010616.1:c.25021A>G | XP_016866105.1:p.Ser8341Gly | |
| XM_017010617.1:c.25018A>G | XP_016866106.1:p.Ser8340Gly | |
| XM_017010618.1:c.25006A>G | XP_016866107.1:p.Ser8336Gly | |
| XM_017010619.1:c.23365A>G | XP_016866108.1:p.Ser7789Gly | |
| NM_182961.4:c.24985A>G MANE Select | NP_892006.3:p.Ser8329Gly | |
| NM_001347701.2:c.1591A>G | NP_001334630.1:p.Ser531Gly | |
| NM_001347702.2:c.1519A>G MANE Plus Clinical | NP_001334631.1:p.Ser507Gly | |
| NM_033071.5:c.24841A>G | NP_149062.2:p.Ser8281Gly |