Linked Data
ClinVar Variation Id:
194449
dbSNP Id:
rs118187988
ExAC:
6:152457795 C / T
gnomAD v2:
6-152457795-C-T
gnomAD v3:
6-152136660-C-T
gnomAD v4:
6-152136660-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152136660C>T , CM000668.2:g.152136660C>T | GRCh38 |
| NC_000006.11:g.152457795C>T , CM000668.1:g.152457795C>T | GRCh37 |
| NC_000006.10:g.152499488C>T | NCBI36 |
| NG_012855.1:g.505740G>A | |
| NG_012855.2:g.505740G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2151G>A MANE Plus Clinical | ENSP00000346701.4:p.Glu717= | |
| ENST00000367255.10:c.25617G>A MANE Select | ENSP00000356224.5:p.Glu8539= | |
| ENST00000423061.6:c.25473G>A | ENSP00000396024.1:p.Glu8491= | |
| ENST00000672154.1:c.1019G>A | ||
| ENST00000672169.1:c.1352G>A | ||
| ENST00000673173.1:c.1261G>A | ||
| ENST00000673451.1:c.1389G>A | ENSP00000500189.1:p.Glu463= | |
| ENST00000341594.9:c.24402G>A | ENSP00000341887.6:p.Glu8134= | |
| ENST00000347037.9:n.2365G>A | ||
| ENST00000354674.4:c.2151G>A | ENSP00000346701.4:p.Glu717= | |
| ENST00000367251.7:c.4452G>A | ENSP00000356220.3:p.Glu1484= | |
| ENST00000367255.9:c.25617G>A | ENSP00000356224.5:p.Glu8539= | |
| ENST00000367256.9:n.9309G>A | ||
| ENST00000367257.8:c.3555G>A | ENSP00000356226.4:p.Glu1185= | |
| ENST00000409694.6:n.9201G>A | ||
| ENST00000423061.5:c.25473G>A | ENSP00000396024.1:p.Glu8491= | |
| ENST00000460912.6:n.2231G>A | ||
| ENST00000478916.5:n.4639G>A | ||
| ENST00000536990.5:n.2454G>A | ||
| ENST00000539504.5:c.2082G>A | ENSP00000441052.1:p.Glu694= | |
| NM_033071.3:c.25473G>A | NP_149062.1:p.Glu8491= | |
| NM_182961.3:c.25617G>A | NP_892006.3:p.Glu8539= | |
| XM_006715407.1:c.25722G>A | XP_006715470.1:p.Glu8574= | |
| XM_006715408.1:c.25710G>A | XP_006715471.1:p.Glu8570= | |
| XM_006715409.1:c.25701G>A | XP_006715472.1:p.Glu8567= | |
| XM_006715410.1:c.25722G>A | XP_006715473.1:p.Glu8574= | |
| XM_006715411.1:c.25671G>A | XP_006715474.1:p.Glu8557= | |
| XM_006715412.1:c.25707G>A | XP_006715475.1:p.Glu8569= | |
| XM_006715413.1:c.25653G>A | XP_006715476.1:p.Glu8551= | |
| XM_006715414.1:c.25650G>A | XP_006715477.1:p.Glu8550= | |
| XM_006715415.1:c.25653G>A | XP_006715478.1:p.Glu8551= | |
| XM_006715416.1:c.25638G>A | XP_006715479.1:p.Glu8546= | |
| XM_006715417.1:c.25581G>A | XP_006715480.1:p.Glu8527= | |
| XM_006715420.1:c.25569G>A | XP_006715483.1:p.Glu8523= | |
| XM_006715421.1:c.25566G>A | XP_006715484.1:p.Glu8522= | |
| XM_006715422.1:c.25563G>A | XP_006715485.1:p.Glu8521= | |
| XM_006715423.1:c.25722G>A | XP_006715486.1:p.Glu8574= | |
| XM_006715424.1:c.25722G>A | XP_006715487.1:p.Glu8574= | |
| XM_006715425.1:c.25653G>A | XP_006715488.1:p.Glu8551= | |
| XM_011535641.1:c.25719G>A | XP_011533943.1:p.Glu8573= | |
| XM_011535642.1:c.25707G>A | XP_011533944.1:p.Glu8569= | |
| XM_011535643.1:c.25557G>A | XP_011533945.1:p.Glu8519= | |
| XM_011535644.1:c.23997G>A | XP_011533946.1:p.Glu7999= | |
| XM_011535645.1:c.23490G>A | XP_011533947.1:p.Glu7830= | |
| XM_011535647.1:c.18957G>A | XP_011533949.1:p.Glu6319= | |
| NM_001347701.1:c.2223G>A | NP_001334630.1:p.Glu741= | |
| NM_001347702.1:c.2151G>A | NP_001334631.1:p.Glu717= | |
| XM_006715408.2:c.25710G>A | XP_006715471.1:p.Glu8570= | |
| XM_006715410.2:c.25722G>A | XP_006715473.1:p.Glu8574= | |
| XM_006715412.2:c.25707G>A | XP_006715475.1:p.Glu8569= | |
| XM_006715413.2:c.25653G>A | XP_006715476.1:p.Glu8551= | |
| XM_006715415.2:c.25653G>A | XP_006715478.1:p.Glu8551= | |
| XM_006715416.2:c.25638G>A | XP_006715479.1:p.Glu8546= | |
| XM_006715417.2:c.25581G>A | XP_006715480.1:p.Glu8527= | |
| XM_006715420.2:c.25569G>A | XP_006715483.1:p.Glu8523= | |
| XM_006715421.2:c.25566G>A | XP_006715484.1:p.Glu8522= | |
| XM_006715423.2:c.25722G>A | XP_006715486.1:p.Glu8574= | |
| XM_006715424.2:c.25722G>A | XP_006715487.1:p.Glu8574= | |
| XM_006715425.2:c.25653G>A | XP_006715488.1:p.Glu8551= | |
| XM_011535641.2:c.25719G>A | XP_011533943.1:p.Glu8573= | |
| XM_011535642.2:c.25707G>A | XP_011533944.1:p.Glu8569= | |
| XM_011535645.2:c.23490G>A | XP_011533947.1:p.Glu7830= | |
| XM_017010608.1:c.25722G>A | XP_016866097.1:p.Glu8574= | |
| XM_017010609.1:c.25722G>A | XP_016866098.1:p.Glu8574= | |
| XM_017010610.1:c.25701G>A | XP_016866099.1:p.Glu8567= | |
| XM_017010611.2:c.25695G>A | XP_016866100.1:p.Glu8565= | |
| XM_017010612.1:c.25644G>A | XP_016866101.1:p.Glu8548= | |
| XM_017010613.1:c.25650G>A | XP_016866102.1:p.Glu8550= | |
| XM_017010614.1:c.25566G>A | XP_016866103.1:p.Glu8522= | |
| XM_017010615.1:c.25497G>A | XP_016866104.1:p.Glu8499= | |
| XM_017010616.1:c.25653G>A | XP_016866105.1:p.Glu8551= | |
| XM_017010617.1:c.25650G>A | XP_016866106.1:p.Glu8550= | |
| XM_017010618.1:c.25638G>A | XP_016866107.1:p.Glu8546= | |
| XM_017010619.1:c.23997G>A | XP_016866108.1:p.Glu7999= | |
| NM_182961.4:c.25617G>A MANE Select | NP_892006.3:p.Glu8539= | |
| NM_001347701.2:c.2223G>A | NP_001334630.1:p.Glu741= | |
| NM_001347702.2:c.2151G>A MANE Plus Clinical | NP_001334631.1:p.Glu717= | |
| NM_033071.5:c.25473G>A | NP_149062.2:p.Glu8491= |