Linked Data
ClinVar Variation Id:
1110318
ClinVar RCV Id:
RCV001436511
dbSNP Id:
rs2152799773
MyVariant Identifiers:
chr6:g.152461160C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152140025C>T , CM000668.2:g.152140025C>T | GRCh38 |
| NC_000006.11:g.152461160C>T , CM000668.1:g.152461160C>T | GRCh37 |
| NC_000006.10:g.152502853C>T | NCBI36 |
| NG_012855.1:g.502375G>A | |
| NG_012855.2:g.502375G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1917G>A MANE Plus Clinical | ENSP00000346701.4:p.Glu639= | |
| ENST00000367255.10:c.25383G>A MANE Select | ENSP00000356224.5:p.Glu8461= | |
| ENST00000423061.6:c.25239G>A | ENSP00000396024.1:p.Glu8413= | |
| ENST00000672154.1:c.785G>A | ||
| ENST00000672169.1:c.1118G>A | ||
| ENST00000673173.1:c.1027G>A | ||
| ENST00000673451.1:c.1155G>A | ENSP00000500189.1:p.Glu385= | |
| ENST00000341594.9:c.24168G>A | ENSP00000341887.6:p.Glu8056= | |
| ENST00000347037.9:n.2131G>A | ||
| ENST00000354674.4:c.1917G>A | ENSP00000346701.4:p.Glu639= | |
| ENST00000367251.7:c.4218G>A | ENSP00000356220.3:p.Glu1406= | |
| ENST00000367255.9:c.25383G>A | ENSP00000356224.5:p.Glu8461= | |
| ENST00000367256.9:n.9075G>A | ||
| ENST00000367257.8:c.3321G>A | ENSP00000356226.4:p.Glu1107= | |
| ENST00000409694.6:n.8967G>A | ||
| ENST00000423061.5:c.25239G>A | ENSP00000396024.1:p.Glu8413= | |
| ENST00000460912.6:n.1997G>A | ||
| ENST00000478916.5:n.4405G>A | ||
| ENST00000536990.5:n.2220G>A | ||
| ENST00000539504.5:c.1848G>A | ENSP00000441052.1:p.Glu616= | |
| NM_033071.3:c.25239G>A | NP_149062.1:p.Glu8413= | |
| NM_182961.3:c.25383G>A | NP_892006.3:p.Glu8461= | |
| XM_006715407.1:c.25488G>A | XP_006715470.1:p.Glu8496= | |
| XM_006715408.1:c.25476G>A | XP_006715471.1:p.Glu8492= | |
| XM_006715409.1:c.25467G>A | XP_006715472.1:p.Glu8489= | |
| XM_006715410.1:c.25488G>A | XP_006715473.1:p.Glu8496= | |
| XM_006715411.1:c.25437G>A | XP_006715474.1:p.Glu8479= | |
| XM_006715412.1:c.25473G>A | XP_006715475.1:p.Glu8491= | |
| XM_006715413.1:c.25419G>A | XP_006715476.1:p.Glu8473= | |
| XM_006715414.1:c.25416G>A | XP_006715477.1:p.Glu8472= | |
| XM_006715415.1:c.25419G>A | XP_006715478.1:p.Glu8473= | |
| XM_006715416.1:c.25404G>A | XP_006715479.1:p.Glu8468= | |
| XM_006715417.1:c.25347G>A | XP_006715480.1:p.Glu8449= | |
| XM_006715420.1:c.25335G>A | XP_006715483.1:p.Glu8445= | |
| XM_006715421.1:c.25332G>A | XP_006715484.1:p.Glu8444= | |
| XM_006715422.1:c.25329G>A | XP_006715485.1:p.Glu8443= | |
| XM_006715423.1:c.25488G>A | XP_006715486.1:p.Glu8496= | |
| XM_006715424.1:c.25488G>A | XP_006715487.1:p.Glu8496= | |
| XM_006715425.1:c.25419G>A | XP_006715488.1:p.Glu8473= | |
| XM_011535641.1:c.25485G>A | XP_011533943.1:p.Glu8495= | |
| XM_011535642.1:c.25473G>A | XP_011533944.1:p.Glu8491= | |
| XM_011535643.1:c.25323G>A | XP_011533945.1:p.Glu8441= | |
| XM_011535644.1:c.23763G>A | XP_011533946.1:p.Glu7921= | |
| XM_011535645.1:c.23256G>A | XP_011533947.1:p.Glu7752= | |
| XM_011535647.1:c.18723G>A | XP_011533949.1:p.Glu6241= | |
| NM_001347701.1:c.1989G>A | NP_001334630.1:p.Glu663= | |
| NM_001347702.1:c.1917G>A | NP_001334631.1:p.Glu639= | |
| XM_006715408.2:c.25476G>A | XP_006715471.1:p.Glu8492= | |
| XM_006715410.2:c.25488G>A | XP_006715473.1:p.Glu8496= | |
| XM_006715412.2:c.25473G>A | XP_006715475.1:p.Glu8491= | |
| XM_006715413.2:c.25419G>A | XP_006715476.1:p.Glu8473= | |
| XM_006715415.2:c.25419G>A | XP_006715478.1:p.Glu8473= | |
| XM_006715416.2:c.25404G>A | XP_006715479.1:p.Glu8468= | |
| XM_006715417.2:c.25347G>A | XP_006715480.1:p.Glu8449= | |
| XM_006715420.2:c.25335G>A | XP_006715483.1:p.Glu8445= | |
| XM_006715421.2:c.25332G>A | XP_006715484.1:p.Glu8444= | |
| XM_006715423.2:c.25488G>A | XP_006715486.1:p.Glu8496= | |
| XM_006715424.2:c.25488G>A | XP_006715487.1:p.Glu8496= | |
| XM_006715425.2:c.25419G>A | XP_006715488.1:p.Glu8473= | |
| XM_011535641.2:c.25485G>A | XP_011533943.1:p.Glu8495= | |
| XM_011535642.2:c.25473G>A | XP_011533944.1:p.Glu8491= | |
| XM_011535645.2:c.23256G>A | XP_011533947.1:p.Glu7752= | |
| XM_017010608.1:c.25488G>A | XP_016866097.1:p.Glu8496= | |
| XM_017010609.1:c.25488G>A | XP_016866098.1:p.Glu8496= | |
| XM_017010610.1:c.25467G>A | XP_016866099.1:p.Glu8489= | |
| XM_017010611.2:c.25461G>A | XP_016866100.1:p.Glu8487= | |
| XM_017010612.1:c.25410G>A | XP_016866101.1:p.Glu8470= | |
| XM_017010613.1:c.25416G>A | XP_016866102.1:p.Glu8472= | |
| XM_017010614.1:c.25332G>A | XP_016866103.1:p.Glu8444= | |
| XM_017010615.1:c.25263G>A | XP_016866104.1:p.Glu8421= | |
| XM_017010616.1:c.25419G>A | XP_016866105.1:p.Glu8473= | |
| XM_017010617.1:c.25416G>A | XP_016866106.1:p.Glu8472= | |
| XM_017010618.1:c.25404G>A | XP_016866107.1:p.Glu8468= | |
| XM_017010619.1:c.23763G>A | XP_016866108.1:p.Glu7921= | |
| NM_182961.4:c.25383G>A MANE Select | NP_892006.3:p.Glu8461= | |
| NM_001347701.2:c.1989G>A | NP_001334630.1:p.Glu663= | |
| NM_001347702.2:c.1917G>A MANE Plus Clinical | NP_001334631.1:p.Glu639= | |
| NM_033071.5:c.25239G>A | NP_149062.2:p.Glu8413= |