Linked Data
ClinVar Variation Id:
1525963
ClinVar RCV Id:
RCV002037081
dbSNP Id:
rs748905719
ExAC:
6:152644649 A / G
gnomAD v2:
6-152644649-A-G
gnomAD v4:
6-152323514-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152323514A>G , CM000668.2:g.152323514A>G | GRCh38 |
| NC_000006.11:g.152644649A>G , CM000668.1:g.152644649A>G | GRCh37 |
| NC_000006.10:g.152686342A>G | NCBI36 |
| NG_012855.1:g.318886T>C | |
| NG_012855.2:g.318886T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.15881T>C MANE Select | ENSP00000356224.5:p.Met5294Thr | |
| ENST00000423061.6:c.15668T>C | ENSP00000396024.1:p.Met5223Thr | |
| ENST00000341594.9:c.14909T>C | ENSP00000341887.6:p.Met4970Thr | |
| ENST00000367255.9:c.15881T>C | ENSP00000356224.5:p.Met5294Thr | |
| ENST00000423061.5:c.15668T>C | ENSP00000396024.1:p.Met5223Thr | |
| ENST00000448038.2:c.-38T>C | ENSP00000390975.2:n.-38T>C | |
| ENST00000490135.6:n.3227T>C | ||
| NM_033071.3:c.15668T>C | NP_149062.1:p.Met5223Thr | |
| NM_182961.3:c.15881T>C | NP_892006.3:p.Met5294Thr | |
| XM_006715407.1:c.15902T>C | XP_006715470.1:p.Met5301Thr | |
| XM_006715408.1:c.15902T>C | XP_006715471.1:p.Met5301Thr | |
| XM_006715409.1:c.15881T>C | XP_006715472.1:p.Met5294Thr | |
| XM_006715410.1:c.15902T>C | XP_006715473.1:p.Met5301Thr | |
| XM_006715411.1:c.15851T>C | XP_006715474.1:p.Met5284Thr | |
| XM_006715412.1:c.15902T>C | XP_006715475.1:p.Met5301Thr | |
| XM_006715413.1:c.15902T>C | XP_006715476.1:p.Met5301Thr | |
| XM_006715414.1:c.15830T>C | XP_006715477.1:p.Met5277Thr | |
| XM_006715415.1:c.15902T>C | XP_006715478.1:p.Met5301Thr | |
| XM_006715416.1:c.15902T>C | XP_006715479.1:p.Met5301Thr | |
| XM_006715417.1:c.15902T>C | XP_006715480.1:p.Met5301Thr | |
| XM_006715420.1:c.15902T>C | XP_006715483.1:p.Met5301Thr | |
| XM_006715421.1:c.15746T>C | XP_006715484.1:p.Met5249Thr | |
| XM_006715422.1:c.15743T>C | XP_006715485.1:p.Met5248Thr | |
| XM_006715423.1:c.15902T>C | XP_006715486.1:p.Met5301Thr | |
| XM_006715424.1:c.15902T>C | XP_006715487.1:p.Met5301Thr | |
| XM_006715425.1:c.15902T>C | XP_006715488.1:p.Met5301Thr | |
| XM_011535641.1:c.15902T>C | XP_011533943.1:p.Met5301Thr | |
| XM_011535642.1:c.15902T>C | XP_011533944.1:p.Met5301Thr | |
| XM_011535643.1:c.15737T>C | XP_011533945.1:p.Met5246Thr | |
| XM_011535644.1:c.14177T>C | XP_011533946.1:p.Met4726Thr | |
| XM_011535645.1:c.13670T>C | XP_011533947.1:p.Met4557Thr | |
| XM_011535646.1:c.15902T>C | XP_011533948.1:p.Met5301Thr | |
| XM_011535647.1:c.9137T>C | XP_011533949.1:p.Met3046Thr | |
| XM_006715408.2:c.15902T>C | XP_006715471.1:p.Met5301Thr | |
| XM_006715410.2:c.15902T>C | XP_006715473.1:p.Met5301Thr | |
| XM_006715412.2:c.15902T>C | XP_006715475.1:p.Met5301Thr | |
| XM_006715413.2:c.15902T>C | XP_006715476.1:p.Met5301Thr | |
| XM_006715415.2:c.15902T>C | XP_006715478.1:p.Met5301Thr | |
| XM_006715416.2:c.15902T>C | XP_006715479.1:p.Met5301Thr | |
| XM_006715417.2:c.15902T>C | XP_006715480.1:p.Met5301Thr | |
| XM_006715420.2:c.15902T>C | XP_006715483.1:p.Met5301Thr | |
| XM_006715421.2:c.15746T>C | XP_006715484.1:p.Met5249Thr | |
| XM_006715423.2:c.15902T>C | XP_006715486.1:p.Met5301Thr | |
| XM_006715424.2:c.15902T>C | XP_006715487.1:p.Met5301Thr | |
| XM_006715425.2:c.15902T>C | XP_006715488.1:p.Met5301Thr | |
| XM_011535641.2:c.15902T>C | XP_011533943.1:p.Met5301Thr | |
| XM_011535642.2:c.15902T>C | XP_011533944.1:p.Met5301Thr | |
| XM_011535645.2:c.13670T>C | XP_011533947.1:p.Met4557Thr | |
| XM_017010608.1:c.15902T>C | XP_016866097.1:p.Met5301Thr | |
| XM_017010609.1:c.15902T>C | XP_016866098.1:p.Met5301Thr | |
| XM_017010610.1:c.15881T>C | XP_016866099.1:p.Met5294Thr | |
| XM_017010611.2:c.15875T>C | XP_016866100.1:p.Met5292Thr | |
| XM_017010612.1:c.15824T>C | XP_016866101.1:p.Met5275Thr | |
| XM_017010613.1:c.15902T>C | XP_016866102.1:p.Met5301Thr | |
| XM_017010614.1:c.15902T>C | XP_016866103.1:p.Met5301Thr | |
| XM_017010615.1:c.15902T>C | XP_016866104.1:p.Met5301Thr | |
| XM_017010616.1:c.15902T>C | XP_016866105.1:p.Met5301Thr | |
| XM_017010617.1:c.15902T>C | XP_016866106.1:p.Met5301Thr | |
| XM_017010618.1:c.15902T>C | XP_016866107.1:p.Met5301Thr | |
| XM_017010619.1:c.14177T>C | XP_016866108.1:p.Met4726Thr | |
| XR_001743287.1:n.16385T>C | ||
| NM_182961.4:c.15881T>C MANE Select | NP_892006.3:p.Met5294Thr | |
| NM_033071.5:c.15668T>C | NP_149062.2:p.Met5223Thr |