Linked Data
ClinVar Variation Id:
497363
dbSNP Id:
rs765865910
ExAC:
6:152451902 C / T
gnomAD v2:
6-152451902-C-T
gnomAD v3:
6-152130767-C-T
gnomAD v4:
6-152130767-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152130767C>T , CM000668.2:g.152130767C>T | GRCh38 |
| NC_000006.11:g.152451902C>T , CM000668.1:g.152451902C>T | GRCh37 |
| NC_000006.10:g.152493595C>T | NCBI36 |
| NG_012855.1:g.511633G>A | |
| NG_008493.2:g.479077C>T | |
| NG_012855.2:g.511633G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2640G>A MANE Plus Clinical | ENSP00000346701.4:p.Lys880= | |
| ENST00000367255.10:c.26106G>A MANE Select | ENSP00000356224.5:p.Lys8702= | |
| ENST00000423061.6:c.25962G>A | ENSP00000396024.1:p.Lys8654= | |
| ENST00000672154.1:c.1496+1355G>A | ||
| ENST00000672169.1:c.1871+1355G>A | ||
| ENST00000673173.1:c.1738+1355G>A | ||
| ENST00000673451.1:c.1956G>A | ENSP00000500189.1:n.1956G>A | |
| ENST00000341594.9:c.24891G>A | ENSP00000341887.6:p.Lys8297= | |
| ENST00000347037.9:n.2854G>A | ||
| ENST00000354674.4:c.2640G>A | ENSP00000346701.4:p.Lys880= | |
| ENST00000367251.7:c.4929+1355G>A | ENSP00000356220.3:n.4929+1355G>A | |
| ENST00000367255.9:c.26106G>A | ENSP00000356224.5:p.Lys8702= | |
| ENST00000367256.9:n.9798G>A | ||
| ENST00000367257.8:c.4032+1355G>A | ENSP00000356226.4:n.4032+1355G>A | |
| ENST00000409694.6:n.9690G>A | ||
| ENST00000423061.5:c.25962G>A | ENSP00000396024.1:p.Lys8654= | |
| ENST00000460912.6:n.2720G>A | ||
| ENST00000478916.5:n.6743G>A | ||
| ENST00000536990.5:n.2931+1355G>A | ||
| ENST00000539504.5:c.2571G>A | ENSP00000441052.1:p.Lys857= | |
| NM_033071.3:c.25962G>A | NP_149062.1:p.Lys8654= | |
| NM_182961.3:c.26106G>A | NP_892006.3:p.Lys8702= | |
| XM_006715407.1:c.26253G>A | XP_006715470.1:p.Lys8751= | |
| XM_006715408.1:c.26241G>A | XP_006715471.1:p.Lys8747= | |
| XM_006715409.1:c.26232G>A | XP_006715472.1:p.Lys8744= | |
| XM_006715410.1:c.26211G>A | XP_006715473.1:p.Lys8737= | |
| XM_006715411.1:c.26202G>A | XP_006715474.1:p.Lys8734= | |
| XM_006715412.1:c.26196G>A | XP_006715475.1:p.Lys8732= | |
| XM_006715413.1:c.26184G>A | XP_006715476.1:p.Lys8728= | |
| XM_006715414.1:c.26181G>A | XP_006715477.1:p.Lys8727= | |
| XM_006715415.1:c.26142G>A | XP_006715478.1:p.Lys8714= | |
| XM_006715416.1:c.26127G>A | XP_006715479.1:p.Lys8709= | |
| XM_006715417.1:c.26112G>A | XP_006715480.1:p.Lys8704= | |
| XM_006715420.1:c.26100G>A | XP_006715483.1:p.Lys8700= | |
| XM_006715421.1:c.26097G>A | XP_006715484.1:p.Lys8699= | |
| XM_006715422.1:c.26094G>A | XP_006715485.1:p.Lys8698= | |
| XM_006715423.1:c.26241+1355G>A | XP_006715486.1:n.26241+1355G>A | |
| XM_006715424.1:c.26199+1355G>A | XP_006715487.1:n.26199+1355G>A | |
| XM_006715425.1:c.26130+1355G>A | XP_006715488.1:n.26130+1355G>A | |
| XM_011535641.1:c.26250G>A | XP_011533943.1:p.Lys8750= | |
| XM_011535642.1:c.26238G>A | XP_011533944.1:p.Lys8746= | |
| XM_011535643.1:c.26088G>A | XP_011533945.1:p.Lys8696= | |
| XM_011535644.1:c.24528G>A | XP_011533946.1:p.Lys8176= | |
| XM_011535645.1:c.24021G>A | XP_011533947.1:p.Lys8007= | |
| XM_011535647.1:c.19488G>A | XP_011533949.1:p.Lys6496= | |
| NM_001347701.1:c.2700+1355G>A | NP_001334630.1:n.2700+1355G>A | |
| NM_001347702.1:c.2640G>A | NP_001334631.1:p.Lys880= | |
| XM_006715408.2:c.26241G>A | XP_006715471.1:p.Lys8747= | |
| XM_006715410.2:c.26211G>A | XP_006715473.1:p.Lys8737= | |
| XM_006715412.2:c.26196G>A | XP_006715475.1:p.Lys8732= | |
| XM_006715413.2:c.26184G>A | XP_006715476.1:p.Lys8728= | |
| XM_006715415.2:c.26142G>A | XP_006715478.1:p.Lys8714= | |
| XM_006715416.2:c.26127G>A | XP_006715479.1:p.Lys8709= | |
| XM_006715417.2:c.26112G>A | XP_006715480.1:p.Lys8704= | |
| XM_006715420.2:c.26100G>A | XP_006715483.1:p.Lys8700= | |
| XM_006715421.2:c.26097G>A | XP_006715484.1:p.Lys8699= | |
| XM_006715423.2:c.26241+1355G>A | XP_006715486.1:n.26241+1355G>A | |
| XM_006715424.2:c.26199+1355G>A | XP_006715487.1:n.26199+1355G>A | |
| XM_006715425.2:c.26130+1355G>A | XP_006715488.1:n.26130+1355G>A | |
| XM_011535641.2:c.26250G>A | XP_011533943.1:p.Lys8750= | |
| XM_011535642.2:c.26238G>A | XP_011533944.1:p.Lys8746= | |
| XM_011535645.2:c.24021G>A | XP_011533947.1:p.Lys8007= | |
| XM_017010608.1:c.26253G>A | XP_016866097.1:p.Lys8751= | |
| XM_017010609.1:c.26253G>A | XP_016866098.1:p.Lys8751= | |
| XM_017010610.1:c.26232G>A | XP_016866099.1:p.Lys8744= | |
| XM_017010611.2:c.26226G>A | XP_016866100.1:p.Lys8742= | |
| XM_017010612.1:c.26175G>A | XP_016866101.1:p.Lys8725= | |
| XM_017010613.1:c.26139G>A | XP_016866102.1:p.Lys8713= | |
| XM_017010614.1:c.26097G>A | XP_016866103.1:p.Lys8699= | |
| XM_017010615.1:c.25986G>A | XP_016866104.1:p.Lys8662= | |
| XM_017010616.1:c.26172+1355G>A | XP_016866105.1:n.26172+1355G>A | |
| XM_017010617.1:c.26127+1355G>A | XP_016866106.1:n.26127+1355G>A | |
| XM_017010618.1:c.26115+1355G>A | XP_016866107.1:n.26115+1355G>A | |
| XM_017010619.1:c.24528G>A | XP_016866108.1:p.Lys8176= | |
| NM_182961.4:c.26106G>A MANE Select | NP_892006.3:p.Lys8702= | |
| NM_001347701.2:c.2700+1355G>A | NP_001334630.1:n.2700+1355G>A | |
| NM_001347702.2:c.2640G>A MANE Plus Clinical | NP_001334631.1:p.Lys880= | |
| NM_033071.5:c.25962G>A | NP_149062.2:p.Lys8654= |