Linked Data
ClinVar Variation Id:
355838
dbSNP Id:
rs367864272
ExAC:
6:152553383 C / G
gnomAD v2:
6-152553383-C-G
gnomAD v3:
6-152232248-C-G
gnomAD v4:
6-152232248-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152232248C>G , CM000668.2:g.152232248C>G | GRCh38 |
| NC_000006.11:g.152553383C>G , CM000668.1:g.152553383C>G | GRCh37 |
| NC_000006.10:g.152595076C>G | NCBI36 |
| NG_012855.1:g.410152G>C | |
| NG_012855.2:g.410152G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.20730G>C MANE Select | ENSP00000356224.5:p.Leu6910= | |
| ENST00000423061.6:c.20517G>C | ENSP00000396024.1:p.Leu6839= | |
| ENST00000341594.9:c.19515G>C | ENSP00000341887.6:p.Leu6505= | |
| ENST00000367255.9:c.20730G>C | ENSP00000356224.5:p.Leu6910= | |
| ENST00000367256.9:n.4422G>C | ||
| ENST00000409694.6:n.4314G>C | ||
| ENST00000423061.5:c.20517G>C | ENSP00000396024.1:p.Leu6839= | |
| NM_033071.3:c.20517G>C | NP_149062.1:p.Leu6839= | |
| NM_182961.3:c.20730G>C | NP_892006.3:p.Leu6910= | |
| XM_006715407.1:c.20766G>C | XP_006715470.1:p.Leu6922= | |
| XM_006715408.1:c.20754G>C | XP_006715471.1:p.Leu6918= | |
| XM_006715409.1:c.20745G>C | XP_006715472.1:p.Leu6915= | |
| XM_006715410.1:c.20766G>C | XP_006715473.1:p.Leu6922= | |
| XM_006715411.1:c.20715G>C | XP_006715474.1:p.Leu6905= | |
| XM_006715412.1:c.20751G>C | XP_006715475.1:p.Leu6917= | |
| XM_006715413.1:c.20766G>C | XP_006715476.1:p.Leu6922= | |
| XM_006715414.1:c.20694G>C | XP_006715477.1:p.Leu6898= | |
| XM_006715415.1:c.20766G>C | XP_006715478.1:p.Leu6922= | |
| XM_006715416.1:c.20751G>C | XP_006715479.1:p.Leu6917= | |
| XM_006715417.1:c.20625G>C | XP_006715480.1:p.Leu6875= | |
| XM_006715420.1:c.20613G>C | XP_006715483.1:p.Leu6871= | |
| XM_006715421.1:c.20610G>C | XP_006715484.1:p.Leu6870= | |
| XM_006715422.1:c.20607G>C | XP_006715485.1:p.Leu6869= | |
| XM_006715423.1:c.20766G>C | XP_006715486.1:p.Leu6922= | |
| XM_006715424.1:c.20766G>C | XP_006715487.1:p.Leu6922= | |
| XM_006715425.1:c.20766G>C | XP_006715488.1:p.Leu6922= | |
| XM_011535641.1:c.20763G>C | XP_011533943.1:p.Leu6921= | |
| XM_011535642.1:c.20751G>C | XP_011533944.1:p.Leu6917= | |
| XM_011535643.1:c.20601G>C | XP_011533945.1:p.Leu6867= | |
| XM_011535644.1:c.19041G>C | XP_011533946.1:p.Leu6347= | |
| XM_011535645.1:c.18534G>C | XP_011533947.1:p.Leu6178= | |
| XM_011535647.1:c.14001G>C | XP_011533949.1:p.Leu4667= | |
| XM_006715408.2:c.20754G>C | XP_006715471.1:p.Leu6918= | |
| XM_006715410.2:c.20766G>C | XP_006715473.1:p.Leu6922= | |
| XM_006715412.2:c.20751G>C | XP_006715475.1:p.Leu6917= | |
| XM_006715413.2:c.20766G>C | XP_006715476.1:p.Leu6922= | |
| XM_006715415.2:c.20766G>C | XP_006715478.1:p.Leu6922= | |
| XM_006715416.2:c.20751G>C | XP_006715479.1:p.Leu6917= | |
| XM_006715417.2:c.20625G>C | XP_006715480.1:p.Leu6875= | |
| XM_006715420.2:c.20613G>C | XP_006715483.1:p.Leu6871= | |
| XM_006715421.2:c.20610G>C | XP_006715484.1:p.Leu6870= | |
| XM_006715423.2:c.20766G>C | XP_006715486.1:p.Leu6922= | |
| XM_006715424.2:c.20766G>C | XP_006715487.1:p.Leu6922= | |
| XM_006715425.2:c.20766G>C | XP_006715488.1:p.Leu6922= | |
| XM_011535641.2:c.20763G>C | XP_011533943.1:p.Leu6921= | |
| XM_011535642.2:c.20751G>C | XP_011533944.1:p.Leu6917= | |
| XM_011535645.2:c.18534G>C | XP_011533947.1:p.Leu6178= | |
| XM_017010608.1:c.20766G>C | XP_016866097.1:p.Leu6922= | |
| XM_017010609.1:c.20766G>C | XP_016866098.1:p.Leu6922= | |
| XM_017010610.1:c.20745G>C | XP_016866099.1:p.Leu6915= | |
| XM_017010611.2:c.20739G>C | XP_016866100.1:p.Leu6913= | |
| XM_017010612.1:c.20688G>C | XP_016866101.1:p.Leu6896= | |
| XM_017010613.1:c.20763G>C | XP_016866102.1:p.Leu6921= | |
| XM_017010614.1:c.20610G>C | XP_016866103.1:p.Leu6870= | |
| XM_017010615.1:c.20610G>C | XP_016866104.1:p.Leu6870= | |
| XM_017010616.1:c.20766G>C | XP_016866105.1:p.Leu6922= | |
| XM_017010617.1:c.20763G>C | XP_016866106.1:p.Leu6921= | |
| XM_017010618.1:c.20751G>C | XP_016866107.1:p.Leu6917= | |
| XM_017010619.1:c.19041G>C | XP_016866108.1:p.Leu6347= | |
| NM_182961.4:c.20730G>C MANE Select | NP_892006.3:p.Leu6910= | |
| NM_033071.5:c.20517G>C | NP_149062.2:p.Leu6839= |