Linked Data
ClinVar Variation Id:
194451
dbSNP Id:
rs41291047
ExAC:
6:152456276 T / G
gnomAD v2:
6-152456276-T-G
gnomAD v3:
6-152135141-T-G
gnomAD v4:
6-152135141-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152135141T>G , CM000668.2:g.152135141T>G | GRCh38 |
| NC_000006.11:g.152456276T>G , CM000668.1:g.152456276T>G | GRCh37 |
| NC_000006.10:g.152497969T>G | NCBI36 |
| NG_012855.1:g.507259A>C | |
| NG_012855.2:g.507259A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2285A>C MANE Plus Clinical | ENSP00000346701.4:p.Asp762Ala | |
| ENST00000367255.10:c.25751A>C MANE Select | ENSP00000356224.5:p.Asp8584Ala | |
| ENST00000423061.6:c.25607A>C | ENSP00000396024.1:p.Asp8536Ala | |
| ENST00000672154.1:c.1153A>C | ||
| ENST00000672169.1:c.1528A>C | ||
| ENST00000673173.1:c.1395A>C | ||
| ENST00000673451.1:c.1523A>C | ENSP00000500189.1:p.Asp508Ala | |
| ENST00000341594.9:c.24536A>C | ENSP00000341887.6:p.Asp8179Ala | |
| ENST00000347037.9:n.2499A>C | ||
| ENST00000354674.4:c.2285A>C | ENSP00000346701.4:p.Asp762Ala | |
| ENST00000367251.7:c.4586A>C | ENSP00000356220.3:p.Asp1529Ala | |
| ENST00000367255.9:c.25751A>C | ENSP00000356224.5:p.Asp8584Ala | |
| ENST00000367256.9:n.9443A>C | ||
| ENST00000367257.8:c.3689A>C | ENSP00000356226.4:p.Asp1230Ala | |
| ENST00000409694.6:n.9335A>C | ||
| ENST00000423061.5:c.25607A>C | ENSP00000396024.1:p.Asp8536Ala | |
| ENST00000460912.6:n.2365A>C | ||
| ENST00000478916.5:n.4773A>C | ||
| ENST00000536990.5:n.2588A>C | ||
| ENST00000539504.5:c.2216A>C | ENSP00000441052.1:p.Asp739Ala | |
| NM_033071.3:c.25607A>C | NP_149062.1:p.Asp8536Ala | |
| NM_182961.3:c.25751A>C | NP_892006.3:p.Asp8584Ala | |
| XM_006715407.1:c.25898A>C | XP_006715470.1:p.Asp8633Ala | |
| XM_006715408.1:c.25886A>C | XP_006715471.1:p.Asp8629Ala | |
| XM_006715409.1:c.25877A>C | XP_006715472.1:p.Asp8626Ala | |
| XM_006715410.1:c.25856A>C | XP_006715473.1:p.Asp8619Ala | |
| XM_006715411.1:c.25847A>C | XP_006715474.1:p.Asp8616Ala | |
| XM_006715412.1:c.25841A>C | XP_006715475.1:p.Asp8614Ala | |
| XM_006715413.1:c.25829A>C | XP_006715476.1:p.Asp8610Ala | |
| XM_006715414.1:c.25826A>C | XP_006715477.1:p.Asp8609Ala | |
| XM_006715415.1:c.25787A>C | XP_006715478.1:p.Asp8596Ala | |
| XM_006715416.1:c.25772A>C | XP_006715479.1:p.Asp8591Ala | |
| XM_006715417.1:c.25757A>C | XP_006715480.1:p.Asp8586Ala | |
| XM_006715420.1:c.25745A>C | XP_006715483.1:p.Asp8582Ala | |
| XM_006715421.1:c.25742A>C | XP_006715484.1:p.Asp8581Ala | |
| XM_006715422.1:c.25739A>C | XP_006715485.1:p.Asp8580Ala | |
| XM_006715423.1:c.25898A>C | XP_006715486.1:p.Asp8633Ala | |
| XM_006715424.1:c.25856A>C | XP_006715487.1:p.Asp8619Ala | |
| XM_006715425.1:c.25787A>C | XP_006715488.1:p.Asp8596Ala | |
| XM_011535641.1:c.25895A>C | XP_011533943.1:p.Asp8632Ala | |
| XM_011535642.1:c.25883A>C | XP_011533944.1:p.Asp8628Ala | |
| XM_011535643.1:c.25733A>C | XP_011533945.1:p.Asp8578Ala | |
| XM_011535644.1:c.24173A>C | XP_011533946.1:p.Asp8058Ala | |
| XM_011535645.1:c.23666A>C | XP_011533947.1:p.Asp7889Ala | |
| XM_011535647.1:c.19133A>C | XP_011533949.1:p.Asp6378Ala | |
| NM_001347701.1:c.2357A>C | NP_001334630.1:p.Asp786Ala | |
| NM_001347702.1:c.2285A>C | NP_001334631.1:p.Asp762Ala | |
| XM_006715408.2:c.25886A>C | XP_006715471.1:p.Asp8629Ala | |
| XM_006715410.2:c.25856A>C | XP_006715473.1:p.Asp8619Ala | |
| XM_006715412.2:c.25841A>C | XP_006715475.1:p.Asp8614Ala | |
| XM_006715413.2:c.25829A>C | XP_006715476.1:p.Asp8610Ala | |
| XM_006715415.2:c.25787A>C | XP_006715478.1:p.Asp8596Ala | |
| XM_006715416.2:c.25772A>C | XP_006715479.1:p.Asp8591Ala | |
| XM_006715417.2:c.25757A>C | XP_006715480.1:p.Asp8586Ala | |
| XM_006715420.2:c.25745A>C | XP_006715483.1:p.Asp8582Ala | |
| XM_006715421.2:c.25742A>C | XP_006715484.1:p.Asp8581Ala | |
| XM_006715423.2:c.25898A>C | XP_006715486.1:p.Asp8633Ala | |
| XM_006715424.2:c.25856A>C | XP_006715487.1:p.Asp8619Ala | |
| XM_006715425.2:c.25787A>C | XP_006715488.1:p.Asp8596Ala | |
| XM_011535641.2:c.25895A>C | XP_011533943.1:p.Asp8632Ala | |
| XM_011535642.2:c.25883A>C | XP_011533944.1:p.Asp8628Ala | |
| XM_011535645.2:c.23666A>C | XP_011533947.1:p.Asp7889Ala | |
| XM_017010608.1:c.25898A>C | XP_016866097.1:p.Asp8633Ala | |
| XM_017010609.1:c.25898A>C | XP_016866098.1:p.Asp8633Ala | |
| XM_017010610.1:c.25877A>C | XP_016866099.1:p.Asp8626Ala | |
| XM_017010611.2:c.25871A>C | XP_016866100.1:p.Asp8624Ala | |
| XM_017010612.1:c.25820A>C | XP_016866101.1:p.Asp8607Ala | |
| XM_017010613.1:c.25784A>C | XP_016866102.1:p.Asp8595Ala | |
| XM_017010614.1:c.25742A>C | XP_016866103.1:p.Asp8581Ala | |
| XM_017010615.1:c.25631A>C | XP_016866104.1:p.Asp8544Ala | |
| XM_017010616.1:c.25829A>C | XP_016866105.1:p.Asp8610Ala | |
| XM_017010617.1:c.25784A>C | XP_016866106.1:p.Asp8595Ala | |
| XM_017010618.1:c.25772A>C | XP_016866107.1:p.Asp8591Ala | |
| XM_017010619.1:c.24173A>C | XP_016866108.1:p.Asp8058Ala | |
| NM_182961.4:c.25751A>C MANE Select | NP_892006.3:p.Asp8584Ala | |
| NM_001347701.2:c.2357A>C | NP_001334630.1:p.Asp786Ala | |
| NM_001347702.2:c.2285A>C MANE Plus Clinical | NP_001334631.1:p.Asp762Ala | |
| NM_033071.5:c.25607A>C | NP_149062.2:p.Asp8536Ala |