Linked Data
ClinVar Variation Id:
283686
dbSNP Id:
rs146705789
ExAC:
6:152642427 A / C
gnomAD v2:
6-152642427-A-C
gnomAD v3:
6-152321292-A-C
gnomAD v4:
6-152321292-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152321292A>C , CM000668.2:g.152321292A>C | GRCh38 |
| NC_000006.11:g.152642427A>C , CM000668.1:g.152642427A>C | GRCh37 |
| NC_000006.10:g.152684120A>C | NCBI36 |
| NG_012855.1:g.321108T>G | |
| NG_012855.2:g.321108T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448038.3:n.342T>G | ||
| ENST00000682179.1:n.253T>G | ||
| ENST00000682252.1:n.253T>G | ||
| ENST00000684208.1:n.253T>G | ||
| ENST00000684643.1:n.342T>G | ||
| ENST00000367255.10:c.16182T>G MANE Select | ENSP00000356224.5:p.Ser5394= | |
| ENST00000423061.6:c.15969T>G | ENSP00000396024.1:p.Ser5323= | |
| ENST00000341594.9:c.15150T>G | ENSP00000341887.6:p.Ser5050= | |
| ENST00000367255.9:c.16182T>G | ENSP00000356224.5:p.Ser5394= | |
| ENST00000423061.5:c.15969T>G | ENSP00000396024.1:p.Ser5323= | |
| ENST00000448038.2:c.264T>G | ENSP00000390975.2:p.Ser88= | |
| ENST00000490135.6:n.3528T>G | ||
| NM_033071.3:c.15969T>G | NP_149062.1:p.Ser5323= | |
| NM_182961.3:c.16182T>G | NP_892006.3:p.Ser5394= | |
| XM_006715407.1:c.16203T>G | XP_006715470.1:p.Ser5401= | |
| XM_006715408.1:c.16203T>G | XP_006715471.1:p.Ser5401= | |
| XM_006715409.1:c.16182T>G | XP_006715472.1:p.Ser5394= | |
| XM_006715410.1:c.16203T>G | XP_006715473.1:p.Ser5401= | |
| XM_006715411.1:c.16152T>G | XP_006715474.1:p.Ser5384= | |
| XM_006715412.1:c.16203T>G | XP_006715475.1:p.Ser5401= | |
| XM_006715413.1:c.16203T>G | XP_006715476.1:p.Ser5401= | |
| XM_006715414.1:c.16131T>G | XP_006715477.1:p.Ser5377= | |
| XM_006715415.1:c.16203T>G | XP_006715478.1:p.Ser5401= | |
| XM_006715416.1:c.16203T>G | XP_006715479.1:p.Ser5401= | |
| XM_006715417.1:c.16203T>G | XP_006715480.1:p.Ser5401= | |
| XM_006715420.1:c.16203T>G | XP_006715483.1:p.Ser5401= | |
| XM_006715421.1:c.16047T>G | XP_006715484.1:p.Ser5349= | |
| XM_006715422.1:c.16044T>G | XP_006715485.1:p.Ser5348= | |
| XM_006715423.1:c.16203T>G | XP_006715486.1:p.Ser5401= | |
| XM_006715424.1:c.16203T>G | XP_006715487.1:p.Ser5401= | |
| XM_006715425.1:c.16203T>G | XP_006715488.1:p.Ser5401= | |
| XM_011535641.1:c.16203T>G | XP_011533943.1:p.Ser5401= | |
| XM_011535642.1:c.16203T>G | XP_011533944.1:p.Ser5401= | |
| XM_011535643.1:c.16038T>G | XP_011533945.1:p.Ser5346= | |
| XM_011535644.1:c.14478T>G | XP_011533946.1:p.Ser4826= | |
| XM_011535645.1:c.13971T>G | XP_011533947.1:p.Ser4657= | |
| XM_011535646.1:c.16203T>G | XP_011533948.1:p.Ser5401= | |
| XM_011535647.1:c.9438T>G | XP_011533949.1:p.Ser3146= | |
| XM_006715408.2:c.16203T>G | XP_006715471.1:p.Ser5401= | |
| XM_006715410.2:c.16203T>G | XP_006715473.1:p.Ser5401= | |
| XM_006715412.2:c.16203T>G | XP_006715475.1:p.Ser5401= | |
| XM_006715413.2:c.16203T>G | XP_006715476.1:p.Ser5401= | |
| XM_006715415.2:c.16203T>G | XP_006715478.1:p.Ser5401= | |
| XM_006715416.2:c.16203T>G | XP_006715479.1:p.Ser5401= | |
| XM_006715417.2:c.16203T>G | XP_006715480.1:p.Ser5401= | |
| XM_006715420.2:c.16203T>G | XP_006715483.1:p.Ser5401= | |
| XM_006715421.2:c.16047T>G | XP_006715484.1:p.Ser5349= | |
| XM_006715423.2:c.16203T>G | XP_006715486.1:p.Ser5401= | |
| XM_006715424.2:c.16203T>G | XP_006715487.1:p.Ser5401= | |
| XM_006715425.2:c.16203T>G | XP_006715488.1:p.Ser5401= | |
| XM_011535641.2:c.16203T>G | XP_011533943.1:p.Ser5401= | |
| XM_011535642.2:c.16203T>G | XP_011533944.1:p.Ser5401= | |
| XM_011535645.2:c.13971T>G | XP_011533947.1:p.Ser4657= | |
| XM_017010608.1:c.16203T>G | XP_016866097.1:p.Ser5401= | |
| XM_017010609.1:c.16203T>G | XP_016866098.1:p.Ser5401= | |
| XM_017010610.1:c.16182T>G | XP_016866099.1:p.Ser5394= | |
| XM_017010611.2:c.16176T>G | XP_016866100.1:p.Ser5392= | |
| XM_017010612.1:c.16125T>G | XP_016866101.1:p.Ser5375= | |
| XM_017010613.1:c.16203T>G | XP_016866102.1:p.Ser5401= | |
| XM_017010614.1:c.16203T>G | XP_016866103.1:p.Ser5401= | |
| XM_017010615.1:c.16203T>G | XP_016866104.1:p.Ser5401= | |
| XM_017010616.1:c.16203T>G | XP_016866105.1:p.Ser5401= | |
| XM_017010617.1:c.16203T>G | XP_016866106.1:p.Ser5401= | |
| XM_017010618.1:c.16203T>G | XP_016866107.1:p.Ser5401= | |
| XM_017010619.1:c.14478T>G | XP_016866108.1:p.Ser4826= | |
| XR_001743287.1:n.16686T>G | ||
| NM_182961.4:c.16182T>G MANE Select | NP_892006.3:p.Ser5394= | |
| NM_033071.5:c.15969T>G | NP_149062.2:p.Ser5323= |