Linked Data
ClinVar Variation Id:
1668380
ClinVar RCV Id:
RCV002191818
dbSNP Id:
rs755748581
gnomAD v4:
6-152140031-C-G
MyVariant Identifiers:
chr6:g.152461166C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152140031C>G , CM000668.2:g.152140031C>G | GRCh38 |
| NC_000006.11:g.152461166C>G , CM000668.1:g.152461166C>G | GRCh37 |
| NC_000006.10:g.152502859C>G | NCBI36 |
| NG_012855.1:g.502369G>C | |
| NG_012855.2:g.502369G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.1911G>C MANE Plus Clinical | ENSP00000346701.4:p.Thr637= | |
| ENST00000367255.10:c.25377G>C MANE Select | ENSP00000356224.5:p.Thr8459= | |
| ENST00000423061.6:c.25233G>C | ENSP00000396024.1:p.Thr8411= | |
| ENST00000672154.1:c.779G>C | ||
| ENST00000672169.1:c.1112G>C | ||
| ENST00000673173.1:c.1021G>C | ||
| ENST00000673451.1:c.1149G>C | ENSP00000500189.1:p.Thr383= | |
| ENST00000341594.9:c.24162G>C | ENSP00000341887.6:p.Thr8054= | |
| ENST00000347037.9:n.2125G>C | ||
| ENST00000354674.4:c.1911G>C | ENSP00000346701.4:p.Thr637= | |
| ENST00000367251.7:c.4212G>C | ENSP00000356220.3:p.Thr1404= | |
| ENST00000367255.9:c.25377G>C | ENSP00000356224.5:p.Thr8459= | |
| ENST00000367256.9:n.9069G>C | ||
| ENST00000367257.8:c.3315G>C | ENSP00000356226.4:p.Thr1105= | |
| ENST00000409694.6:n.8961G>C | ||
| ENST00000423061.5:c.25233G>C | ENSP00000396024.1:p.Thr8411= | |
| ENST00000460912.6:n.1991G>C | ||
| ENST00000478916.5:n.4399G>C | ||
| ENST00000536990.5:n.2214G>C | ||
| ENST00000539504.5:c.1842G>C | ENSP00000441052.1:p.Thr614= | |
| NM_033071.3:c.25233G>C | NP_149062.1:p.Thr8411= | |
| NM_182961.3:c.25377G>C | NP_892006.3:p.Thr8459= | |
| XM_006715407.1:c.25482G>C | XP_006715470.1:p.Thr8494= | |
| XM_006715408.1:c.25470G>C | XP_006715471.1:p.Thr8490= | |
| XM_006715409.1:c.25461G>C | XP_006715472.1:p.Thr8487= | |
| XM_006715410.1:c.25482G>C | XP_006715473.1:p.Thr8494= | |
| XM_006715411.1:c.25431G>C | XP_006715474.1:p.Thr8477= | |
| XM_006715412.1:c.25467G>C | XP_006715475.1:p.Thr8489= | |
| XM_006715413.1:c.25413G>C | XP_006715476.1:p.Thr8471= | |
| XM_006715414.1:c.25410G>C | XP_006715477.1:p.Thr8470= | |
| XM_006715415.1:c.25413G>C | XP_006715478.1:p.Thr8471= | |
| XM_006715416.1:c.25398G>C | XP_006715479.1:p.Thr8466= | |
| XM_006715417.1:c.25341G>C | XP_006715480.1:p.Thr8447= | |
| XM_006715420.1:c.25329G>C | XP_006715483.1:p.Thr8443= | |
| XM_006715421.1:c.25326G>C | XP_006715484.1:p.Thr8442= | |
| XM_006715422.1:c.25323G>C | XP_006715485.1:p.Thr8441= | |
| XM_006715423.1:c.25482G>C | XP_006715486.1:p.Thr8494= | |
| XM_006715424.1:c.25482G>C | XP_006715487.1:p.Thr8494= | |
| XM_006715425.1:c.25413G>C | XP_006715488.1:p.Thr8471= | |
| XM_011535641.1:c.25479G>C | XP_011533943.1:p.Thr8493= | |
| XM_011535642.1:c.25467G>C | XP_011533944.1:p.Thr8489= | |
| XM_011535643.1:c.25317G>C | XP_011533945.1:p.Thr8439= | |
| XM_011535644.1:c.23757G>C | XP_011533946.1:p.Thr7919= | |
| XM_011535645.1:c.23250G>C | XP_011533947.1:p.Thr7750= | |
| XM_011535647.1:c.18717G>C | XP_011533949.1:p.Thr6239= | |
| NM_001347701.1:c.1983G>C | NP_001334630.1:p.Thr661= | |
| NM_001347702.1:c.1911G>C | NP_001334631.1:p.Thr637= | |
| XM_006715408.2:c.25470G>C | XP_006715471.1:p.Thr8490= | |
| XM_006715410.2:c.25482G>C | XP_006715473.1:p.Thr8494= | |
| XM_006715412.2:c.25467G>C | XP_006715475.1:p.Thr8489= | |
| XM_006715413.2:c.25413G>C | XP_006715476.1:p.Thr8471= | |
| XM_006715415.2:c.25413G>C | XP_006715478.1:p.Thr8471= | |
| XM_006715416.2:c.25398G>C | XP_006715479.1:p.Thr8466= | |
| XM_006715417.2:c.25341G>C | XP_006715480.1:p.Thr8447= | |
| XM_006715420.2:c.25329G>C | XP_006715483.1:p.Thr8443= | |
| XM_006715421.2:c.25326G>C | XP_006715484.1:p.Thr8442= | |
| XM_006715423.2:c.25482G>C | XP_006715486.1:p.Thr8494= | |
| XM_006715424.2:c.25482G>C | XP_006715487.1:p.Thr8494= | |
| XM_006715425.2:c.25413G>C | XP_006715488.1:p.Thr8471= | |
| XM_011535641.2:c.25479G>C | XP_011533943.1:p.Thr8493= | |
| XM_011535642.2:c.25467G>C | XP_011533944.1:p.Thr8489= | |
| XM_011535645.2:c.23250G>C | XP_011533947.1:p.Thr7750= | |
| XM_017010608.1:c.25482G>C | XP_016866097.1:p.Thr8494= | |
| XM_017010609.1:c.25482G>C | XP_016866098.1:p.Thr8494= | |
| XM_017010610.1:c.25461G>C | XP_016866099.1:p.Thr8487= | |
| XM_017010611.2:c.25455G>C | XP_016866100.1:p.Thr8485= | |
| XM_017010612.1:c.25404G>C | XP_016866101.1:p.Thr8468= | |
| XM_017010613.1:c.25410G>C | XP_016866102.1:p.Thr8470= | |
| XM_017010614.1:c.25326G>C | XP_016866103.1:p.Thr8442= | |
| XM_017010615.1:c.25257G>C | XP_016866104.1:p.Thr8419= | |
| XM_017010616.1:c.25413G>C | XP_016866105.1:p.Thr8471= | |
| XM_017010617.1:c.25410G>C | XP_016866106.1:p.Thr8470= | |
| XM_017010618.1:c.25398G>C | XP_016866107.1:p.Thr8466= | |
| XM_017010619.1:c.23757G>C | XP_016866108.1:p.Thr7919= | |
| NM_182961.4:c.25377G>C MANE Select | NP_892006.3:p.Thr8459= | |
| NM_001347701.2:c.1983G>C | NP_001334630.1:p.Thr661= | |
| NM_001347702.2:c.1911G>C MANE Plus Clinical | NP_001334631.1:p.Thr637= | |
| NM_033071.5:c.25233G>C | NP_149062.2:p.Thr8411= |