Linked Data
ClinVar Variation Id:
290258
dbSNP Id:
rs768886911
ExAC:
6:152546922 G / A
gnomAD v2:
6-152546922-G-A
gnomAD v4:
6-152225787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152225787G>A , CM000668.2:g.152225787G>A | GRCh38 |
| NC_000006.11:g.152546922G>A , CM000668.1:g.152546922G>A | GRCh37 |
| NC_000006.10:g.152588615G>A | NCBI36 |
| NG_012855.1:g.416613C>T | |
| NG_012855.2:g.416613C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.21285C>T MANE Select | ENSP00000356224.5:p.Asp7095= | |
| ENST00000423061.6:c.21072C>T | ENSP00000396024.1:p.Asp7024= | |
| ENST00000341594.9:c.20070C>T | ENSP00000341887.6:p.Asp6690= | |
| ENST00000367251.7:c.51C>T | ENSP00000356220.3:p.Asp17= | |
| ENST00000367255.9:c.21285C>T | ENSP00000356224.5:p.Asp7095= | |
| ENST00000367256.9:n.4977C>T | ||
| ENST00000409694.6:n.4869C>T | ||
| ENST00000423061.5:c.21072C>T | ENSP00000396024.1:p.Asp7024= | |
| NM_033071.3:c.21072C>T | NP_149062.1:p.Asp7024= | |
| NM_182961.3:c.21285C>T | NP_892006.3:p.Asp7095= | |
| XM_006715407.1:c.21321C>T | XP_006715470.1:p.Asp7107= | |
| XM_006715408.1:c.21309C>T | XP_006715471.1:p.Asp7103= | |
| XM_006715409.1:c.21300C>T | XP_006715472.1:p.Asp7100= | |
| XM_006715410.1:c.21321C>T | XP_006715473.1:p.Asp7107= | |
| XM_006715411.1:c.21270C>T | XP_006715474.1:p.Asp7090= | |
| XM_006715412.1:c.21306C>T | XP_006715475.1:p.Asp7102= | |
| XM_006715413.1:c.21321C>T | XP_006715476.1:p.Asp7107= | |
| XM_006715414.1:c.21249C>T | XP_006715477.1:p.Asp7083= | |
| XM_006715415.1:c.21321C>T | XP_006715478.1:p.Asp7107= | |
| XM_006715416.1:c.21306C>T | XP_006715479.1:p.Asp7102= | |
| XM_006715417.1:c.21180C>T | XP_006715480.1:p.Asp7060= | |
| XM_006715420.1:c.21168C>T | XP_006715483.1:p.Asp7056= | |
| XM_006715421.1:c.21165C>T | XP_006715484.1:p.Asp7055= | |
| XM_006715422.1:c.21162C>T | XP_006715485.1:p.Asp7054= | |
| XM_006715423.1:c.21321C>T | XP_006715486.1:p.Asp7107= | |
| XM_006715424.1:c.21321C>T | XP_006715487.1:p.Asp7107= | |
| XM_006715425.1:c.21321C>T | XP_006715488.1:p.Asp7107= | |
| XM_011535641.1:c.21318C>T | XP_011533943.1:p.Asp7106= | |
| XM_011535642.1:c.21306C>T | XP_011533944.1:p.Asp7102= | |
| XM_011535643.1:c.21156C>T | XP_011533945.1:p.Asp7052= | |
| XM_011535644.1:c.19596C>T | XP_011533946.1:p.Asp6532= | |
| XM_011535645.1:c.19089C>T | XP_011533947.1:p.Asp6363= | |
| XM_011535647.1:c.14556C>T | XP_011533949.1:p.Asp4852= | |
| XM_006715408.2:c.21309C>T | XP_006715471.1:p.Asp7103= | |
| XM_006715410.2:c.21321C>T | XP_006715473.1:p.Asp7107= | |
| XM_006715412.2:c.21306C>T | XP_006715475.1:p.Asp7102= | |
| XM_006715413.2:c.21321C>T | XP_006715476.1:p.Asp7107= | |
| XM_006715415.2:c.21321C>T | XP_006715478.1:p.Asp7107= | |
| XM_006715416.2:c.21306C>T | XP_006715479.1:p.Asp7102= | |
| XM_006715417.2:c.21180C>T | XP_006715480.1:p.Asp7060= | |
| XM_006715420.2:c.21168C>T | XP_006715483.1:p.Asp7056= | |
| XM_006715421.2:c.21165C>T | XP_006715484.1:p.Asp7055= | |
| XM_006715423.2:c.21321C>T | XP_006715486.1:p.Asp7107= | |
| XM_006715424.2:c.21321C>T | XP_006715487.1:p.Asp7107= | |
| XM_006715425.2:c.21321C>T | XP_006715488.1:p.Asp7107= | |
| XM_011535641.2:c.21318C>T | XP_011533943.1:p.Asp7106= | |
| XM_011535642.2:c.21306C>T | XP_011533944.1:p.Asp7102= | |
| XM_011535645.2:c.19089C>T | XP_011533947.1:p.Asp6363= | |
| XM_017010608.1:c.21321C>T | XP_016866097.1:p.Asp7107= | |
| XM_017010609.1:c.21321C>T | XP_016866098.1:p.Asp7107= | |
| XM_017010610.1:c.21300C>T | XP_016866099.1:p.Asp7100= | |
| XM_017010611.2:c.21294C>T | XP_016866100.1:p.Asp7098= | |
| XM_017010612.1:c.21243C>T | XP_016866101.1:p.Asp7081= | |
| XM_017010613.1:c.21318C>T | XP_016866102.1:p.Asp7106= | |
| XM_017010614.1:c.21165C>T | XP_016866103.1:p.Asp7055= | |
| XM_017010615.1:c.21165C>T | XP_016866104.1:p.Asp7055= | |
| XM_017010616.1:c.21321C>T | XP_016866105.1:p.Asp7107= | |
| XM_017010617.1:c.21318C>T | XP_016866106.1:p.Asp7106= | |
| XM_017010618.1:c.21306C>T | XP_016866107.1:p.Asp7102= | |
| XM_017010619.1:c.19596C>T | XP_016866108.1:p.Asp6532= | |
| NM_182961.4:c.21285C>T MANE Select | NP_892006.3:p.Asp7095= | |
| NM_033071.5:c.21072C>T | NP_149062.2:p.Asp7024= |