Linked Data
ClinVar Variation Id:
282403
dbSNP Id:
rs139834542
ExAC:
6:152454556 A / G
gnomAD v2:
6-152454556-A-G
gnomAD v3:
6-152133421-A-G
gnomAD v4:
6-152133421-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152133421A>G , CM000668.2:g.152133421A>G | GRCh38 |
| NC_000006.11:g.152454556A>G , CM000668.1:g.152454556A>G | GRCh37 |
| NC_000006.10:g.152496249A>G | NCBI36 |
| NG_012855.1:g.508979T>C | |
| NG_012855.2:g.508979T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2390T>C MANE Plus Clinical | ENSP00000346701.4:p.Leu797Pro | |
| ENST00000367255.10:c.25856T>C MANE Select | ENSP00000356224.5:p.Leu8619Pro | |
| ENST00000423061.6:c.25712T>C | ENSP00000396024.1:p.Leu8571Pro | |
| ENST00000672154.1:c.1258T>C | ||
| ENST00000672169.1:c.1633T>C | ||
| ENST00000673173.1:c.1500T>C | ||
| ENST00000673451.1:c.1706T>C | ENSP00000500189.1:n.1706T>C | |
| ENST00000341594.9:c.24641T>C | ENSP00000341887.6:p.Leu8214Pro | |
| ENST00000347037.9:n.2604T>C | ||
| ENST00000354674.4:c.2390T>C | ENSP00000346701.4:p.Leu797Pro | |
| ENST00000367251.7:c.4691T>C | ENSP00000356220.3:p.Leu1564Pro | |
| ENST00000367255.9:c.25856T>C | ENSP00000356224.5:p.Leu8619Pro | |
| ENST00000367256.9:n.9548T>C | ||
| ENST00000367257.8:c.3794T>C | ENSP00000356226.4:p.Leu1265Pro | |
| ENST00000409694.6:n.9440T>C | ||
| ENST00000423061.5:c.25712T>C | ENSP00000396024.1:p.Leu8571Pro | |
| ENST00000460912.6:n.2470T>C | ||
| ENST00000478916.5:n.6493T>C | ||
| ENST00000536990.5:n.2693T>C | ||
| ENST00000539504.5:c.2321T>C | ENSP00000441052.1:p.Leu774Pro | |
| NM_033071.3:c.25712T>C | NP_149062.1:p.Leu8571Pro | |
| NM_182961.3:c.25856T>C | NP_892006.3:p.Leu8619Pro | |
| XM_006715407.1:c.26003T>C | XP_006715470.1:p.Leu8668Pro | |
| XM_006715408.1:c.25991T>C | XP_006715471.1:p.Leu8664Pro | |
| XM_006715409.1:c.25982T>C | XP_006715472.1:p.Leu8661Pro | |
| XM_006715410.1:c.25961T>C | XP_006715473.1:p.Leu8654Pro | |
| XM_006715411.1:c.25952T>C | XP_006715474.1:p.Leu8651Pro | |
| XM_006715412.1:c.25946T>C | XP_006715475.1:p.Leu8649Pro | |
| XM_006715413.1:c.25934T>C | XP_006715476.1:p.Leu8645Pro | |
| XM_006715414.1:c.25931T>C | XP_006715477.1:p.Leu8644Pro | |
| XM_006715415.1:c.25892T>C | XP_006715478.1:p.Leu8631Pro | |
| XM_006715416.1:c.25877T>C | XP_006715479.1:p.Leu8626Pro | |
| XM_006715417.1:c.25862T>C | XP_006715480.1:p.Leu8621Pro | |
| XM_006715420.1:c.25850T>C | XP_006715483.1:p.Leu8617Pro | |
| XM_006715421.1:c.25847T>C | XP_006715484.1:p.Leu8616Pro | |
| XM_006715422.1:c.25844T>C | XP_006715485.1:p.Leu8615Pro | |
| XM_006715423.1:c.26003T>C | XP_006715486.1:p.Leu8668Pro | |
| XM_006715424.1:c.25961T>C | XP_006715487.1:p.Leu8654Pro | |
| XM_006715425.1:c.25892T>C | XP_006715488.1:p.Leu8631Pro | |
| XM_011535641.1:c.26000T>C | XP_011533943.1:p.Leu8667Pro | |
| XM_011535642.1:c.25988T>C | XP_011533944.1:p.Leu8663Pro | |
| XM_011535643.1:c.25838T>C | XP_011533945.1:p.Leu8613Pro | |
| XM_011535644.1:c.24278T>C | XP_011533946.1:p.Leu8093Pro | |
| XM_011535645.1:c.23771T>C | XP_011533947.1:p.Leu7924Pro | |
| XM_011535647.1:c.19238T>C | XP_011533949.1:p.Leu6413Pro | |
| NM_001347701.1:c.2462T>C | NP_001334630.1:p.Leu821Pro | |
| NM_001347702.1:c.2390T>C | NP_001334631.1:p.Leu797Pro | |
| XM_006715408.2:c.25991T>C | XP_006715471.1:p.Leu8664Pro | |
| XM_006715410.2:c.25961T>C | XP_006715473.1:p.Leu8654Pro | |
| XM_006715412.2:c.25946T>C | XP_006715475.1:p.Leu8649Pro | |
| XM_006715413.2:c.25934T>C | XP_006715476.1:p.Leu8645Pro | |
| XM_006715415.2:c.25892T>C | XP_006715478.1:p.Leu8631Pro | |
| XM_006715416.2:c.25877T>C | XP_006715479.1:p.Leu8626Pro | |
| XM_006715417.2:c.25862T>C | XP_006715480.1:p.Leu8621Pro | |
| XM_006715420.2:c.25850T>C | XP_006715483.1:p.Leu8617Pro | |
| XM_006715421.2:c.25847T>C | XP_006715484.1:p.Leu8616Pro | |
| XM_006715423.2:c.26003T>C | XP_006715486.1:p.Leu8668Pro | |
| XM_006715424.2:c.25961T>C | XP_006715487.1:p.Leu8654Pro | |
| XM_006715425.2:c.25892T>C | XP_006715488.1:p.Leu8631Pro | |
| XM_011535641.2:c.26000T>C | XP_011533943.1:p.Leu8667Pro | |
| XM_011535642.2:c.25988T>C | XP_011533944.1:p.Leu8663Pro | |
| XM_011535645.2:c.23771T>C | XP_011533947.1:p.Leu7924Pro | |
| XM_017010608.1:c.26003T>C | XP_016866097.1:p.Leu8668Pro | |
| XM_017010609.1:c.26003T>C | XP_016866098.1:p.Leu8668Pro | |
| XM_017010610.1:c.25982T>C | XP_016866099.1:p.Leu8661Pro | |
| XM_017010611.2:c.25976T>C | XP_016866100.1:p.Leu8659Pro | |
| XM_017010612.1:c.25925T>C | XP_016866101.1:p.Leu8642Pro | |
| XM_017010613.1:c.25889T>C | XP_016866102.1:p.Leu8630Pro | |
| XM_017010614.1:c.25847T>C | XP_016866103.1:p.Leu8616Pro | |
| XM_017010615.1:c.25736T>C | XP_016866104.1:p.Leu8579Pro | |
| XM_017010616.1:c.25934T>C | XP_016866105.1:p.Leu8645Pro | |
| XM_017010617.1:c.25889T>C | XP_016866106.1:p.Leu8630Pro | |
| XM_017010618.1:c.25877T>C | XP_016866107.1:p.Leu8626Pro | |
| XM_017010619.1:c.24278T>C | XP_016866108.1:p.Leu8093Pro | |
| NM_182961.4:c.25856T>C MANE Select | NP_892006.3:p.Leu8619Pro | |
| NM_001347701.2:c.2462T>C | NP_001334630.1:p.Leu821Pro | |
| NM_001347702.2:c.2390T>C MANE Plus Clinical | NP_001334631.1:p.Leu797Pro | |
| NM_033071.5:c.25712T>C | NP_149062.2:p.Leu8571Pro |