Linked Data
ClinVar Variation Id:
514825
dbSNP Id:
rs201537074
ExAC:
6:152783876 C / T
gnomAD v2:
6-152783876-C-T
gnomAD v3:
6-152462741-C-T
gnomAD v4:
6-152462741-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152462741C>T , CM000668.2:g.152462741C>T | GRCh38 |
| NC_000006.11:g.152783876C>T , CM000668.1:g.152783876C>T | GRCh37 |
| NC_000006.10:g.152825569C>T | NCBI36 |
| NG_012855.1:g.179659G>A | |
| NG_012855.2:g.179659G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.2247G>A MANE Select | ENSP00000356224.5:p.Leu749= | |
| ENST00000423061.6:c.2268G>A | ENSP00000396024.1:p.Leu756= | |
| ENST00000535896.7:c.2241G>A | ENSP00000500235.1:p.Leu747= | |
| ENST00000672122.1:c.2190G>A | ENSP00000500559.1:p.Leu730= | |
| ENST00000673163.1:c.*2217G>A | ENSP00000499934.1:n.*2217G>A | |
| ENST00000673281.1:c.2241G>A | ENSP00000500893.1:p.Leu747= | |
| ENST00000341594.9:c.2217G>A | ENSP00000341887.6:p.Leu739= | |
| ENST00000367248.7:c.2217G>A | ENSP00000356217.3:p.Leu739= | |
| ENST00000367253.8:c.2247G>A | ENSP00000356222.4:p.Leu749= | |
| ENST00000367255.9:c.2247G>A | ENSP00000356224.5:p.Leu749= | |
| ENST00000413186.6:c.2247G>A | ENSP00000414510.2:p.Leu749= | |
| ENST00000423061.5:c.2268G>A | ENSP00000396024.1:p.Leu756= | |
| ENST00000461872.6:n.2465G>A | ||
| ENST00000466159.6:c.2247G>A | ENSP00000446021.1:p.Leu749= | |
| ENST00000474655.6:c.849G>A | ||
| ENST00000495090.6:c.948G>A | ENSP00000438508.1:p.Leu316= | |
| ENST00000498751.1:n.450G>A | ||
| ENST00000535896.6:n.1067G>A | ||
| NM_033071.3:c.2268G>A | NP_149062.1:p.Leu756= | |
| NM_182961.3:c.2247G>A | NP_892006.3:p.Leu749= | |
| XM_006715407.1:c.2268G>A | XP_006715470.1:p.Leu756= | |
| XM_006715408.1:c.2268G>A | XP_006715471.1:p.Leu756= | |
| XM_006715409.1:c.2247G>A | XP_006715472.1:p.Leu749= | |
| XM_006715410.1:c.2268G>A | XP_006715473.1:p.Leu756= | |
| XM_006715411.1:c.2217G>A | XP_006715474.1:p.Leu739= | |
| XM_006715412.1:c.2268G>A | XP_006715475.1:p.Leu756= | |
| XM_006715413.1:c.2268G>A | XP_006715476.1:p.Leu756= | |
| XM_006715414.1:c.2196G>A | XP_006715477.1:p.Leu732= | |
| XM_006715415.1:c.2268G>A | XP_006715478.1:p.Leu756= | |
| XM_006715416.1:c.2268G>A | XP_006715479.1:p.Leu756= | |
| XM_006715417.1:c.2268G>A | XP_006715480.1:p.Leu756= | |
| XM_006715420.1:c.2268G>A | XP_006715483.1:p.Leu756= | |
| XM_006715421.1:c.2268G>A | XP_006715484.1:p.Leu756= | |
| XM_006715422.1:c.2268G>A | XP_006715485.1:p.Leu756= | |
| XM_006715423.1:c.2268G>A | XP_006715486.1:p.Leu756= | |
| XM_006715424.1:c.2268G>A | XP_006715487.1:p.Leu756= | |
| XM_006715425.1:c.2268G>A | XP_006715488.1:p.Leu756= | |
| XM_011535641.1:c.2268G>A | XP_011533943.1:p.Leu756= | |
| XM_011535642.1:c.2268G>A | XP_011533944.1:p.Leu756= | |
| XM_011535643.1:c.2103G>A | XP_011533945.1:p.Leu701= | |
| XM_011535644.1:c.543G>A | XP_011533946.1:p.Leu181= | |
| XM_011535645.1:c.-6G>A | XP_011533947.1:n.-6G>A | |
| XM_011535646.1:c.2268G>A | XP_011533948.1:p.Leu756= | |
| XM_006715408.2:c.2268G>A | XP_006715471.1:p.Leu756= | |
| XM_006715410.2:c.2268G>A | XP_006715473.1:p.Leu756= | |
| XM_006715412.2:c.2268G>A | XP_006715475.1:p.Leu756= | |
| XM_006715413.2:c.2268G>A | XP_006715476.1:p.Leu756= | |
| XM_006715415.2:c.2268G>A | XP_006715478.1:p.Leu756= | |
| XM_006715416.2:c.2268G>A | XP_006715479.1:p.Leu756= | |
| XM_006715417.2:c.2268G>A | XP_006715480.1:p.Leu756= | |
| XM_006715420.2:c.2268G>A | XP_006715483.1:p.Leu756= | |
| XM_006715421.2:c.2268G>A | XP_006715484.1:p.Leu756= | |
| XM_006715423.2:c.2268G>A | XP_006715486.1:p.Leu756= | |
| XM_006715424.2:c.2268G>A | XP_006715487.1:p.Leu756= | |
| XM_006715425.2:c.2268G>A | XP_006715488.1:p.Leu756= | |
| XM_011535641.2:c.2268G>A | XP_011533943.1:p.Leu756= | |
| XM_011535642.2:c.2268G>A | XP_011533944.1:p.Leu756= | |
| XM_011535645.2:c.-6G>A | XP_011533947.1:n.-6G>A | |
| XM_017010608.1:c.2268G>A | XP_016866097.1:p.Leu756= | |
| XM_017010609.1:c.2268G>A | XP_016866098.1:p.Leu756= | |
| XM_017010610.1:c.2247G>A | XP_016866099.1:p.Leu749= | |
| XM_017010611.2:c.2241G>A | XP_016866100.1:p.Leu747= | |
| XM_017010612.1:c.2190G>A | XP_016866101.1:p.Leu730= | |
| XM_017010613.1:c.2268G>A | XP_016866102.1:p.Leu756= | |
| XM_017010614.1:c.2268G>A | XP_016866103.1:p.Leu756= | |
| XM_017010615.1:c.2268G>A | XP_016866104.1:p.Leu756= | |
| XM_017010616.1:c.2268G>A | XP_016866105.1:p.Leu756= | |
| XM_017010617.1:c.2268G>A | XP_016866106.1:p.Leu756= | |
| XM_017010618.1:c.2268G>A | XP_016866107.1:p.Leu756= | |
| XM_017010619.1:c.543G>A | XP_016866108.1:p.Leu181= | |
| XR_001743287.1:n.2751G>A | ||
| NM_182961.4:c.2247G>A MANE Select | NP_892006.3:p.Leu749= | |
| NM_033071.5:c.2268G>A | NP_149062.2:p.Leu756= |