Linked Data
ClinVar Variation Id:
660018
ClinVar RCV Id:
RCV000817129
dbSNP Id:
rs1593672840
gnomAD v4:
13-51944273-C-G
COSMIC:
COSM307382
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51944273C>G , CM000675.2:g.51944273C>G | GRCh38 |
| NC_000013.10:g.52518409C>G , CM000675.1:g.52518409C>G | GRCh37 |
| NC_000013.9:g.51416410C>G | NCBI36 |
| NG_008806.1:g.72222G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*894-1719G>C | ENSP00000489512.2:n.*894-1719G>C | |
| ENST00000673864.2:c.*1823G>C | ENSP00000501045.2:n.*1823G>C | |
| ENST00000674147.2:c.2458G>C | ENSP00000500964.2:p.Asp820His | |
| ENST00000242839.10:c.3079G>C MANE Select | ENSP00000242839.5:p.Asp1027His | |
| ENST00000344297.9:c.2458G>C | ENSP00000342559.5:p.Asp820His | |
| ENST00000400366.6:c.2746G>C | ENSP00000383217.3:p.Asp916His | |
| ENST00000448424.7:c.2827G>C | ENSP00000416738.3:p.Asp943His | |
| ENST00000673772.1:c.2845G>C | ENSP00000501168.1:p.Asp949His | |
| ENST00000673867.1:n.3218G>C | ||
| ENST00000674126.1:n.3442G>C | ||
| ENST00000674147.1:c.2014G>C | ENSP00000500964.1:p.Asp672His | |
| ENST00000242839.8:c.3079G>C | ENSP00000242839.4:p.Asp1027His | |
| ENST00000344297.8:c.2458G>C | ENSP00000342559.5:p.Asp820His | |
| ENST00000400366.5:c.2746G>C | ENSP00000383217.3:p.Asp916His | |
| ENST00000400370.8:c.1789G>C | ENSP00000383221.3:p.Asp597His | |
| ENST00000418097.7:c.2884G>C | ENSP00000393343.2:p.Asp962His | |
| ENST00000448424.6:c.2845G>C | ENSP00000416738.2:p.Asp949His | |
| ENST00000466629.1:n.299G>C | ||
| ENST00000634296.1:c.1022-1719G>C | ||
| ENST00000634308.1:c.*180G>C | ENSP00000489234.1:n.*180G>C | |
| ENST00000634620.1:n.3823G>C | ||
| ENST00000634810.1:n.2424G>C | ||
| ENST00000634844.1:c.2935G>C | ENSP00000489398.1:p.Asp979His | |
| ENST00000635406.1:n.425G>C | ||
| NM_000053.3:c.3079G>C | NP_000044.2:p.Asp1027His | |
| NM_001005918.2:c.2458G>C | NP_001005918.1:p.Asp820His | |
| NM_001243182.1:c.2746G>C | NP_001230111.1:p.Asp916His | |
| XM_005266423.2:c.2983G>C | XP_005266480.1:p.Asp995His | |
| XM_005266424.3:c.2983G>C | XP_005266481.1:p.Asp995His | |
| XM_005266427.2:c.2845G>C | XP_005266484.1:p.Asp949His | |
| XM_005266428.1:c.2827G>C | XP_005266485.1:p.Asp943His | |
| XM_005266430.3:c.3079G>C | XP_005266487.1:p.Asp1027His | |
| XM_005266431.2:c.3043G>C | XP_005266488.1:p.Asp1015His | |
| XM_005266432.2:c.2593G>C | XP_005266489.1:p.Asp865His | |
| XM_006719837.2:c.2983G>C | XP_006719900.1:p.Asp995His | |
| XM_006719838.1:c.895G>C | XP_006719901.1:p.Asp299His | |
| XM_006719839.1:c.877-1719G>C | XP_006719902.1:n.877-1719G>C | |
| XM_011535117.1:c.2983G>C | XP_011533419.1:p.Asp995His | |
| XM_011535118.1:c.2944G>C | XP_011533420.1:p.Asp982His | |
| XM_011535119.1:c.3061-1719G>C | XP_011533421.1:n.3061-1719G>C | |
| XM_011535120.1:c.2665G>C | XP_011533422.1:p.Asp889His | |
| XM_011535121.1:c.2731-1719G>C | XP_011533423.1:n.2731-1719G>C | |
| XM_011535122.1:c.1747G>C | XP_011533424.1:p.Asp583His | |
| XR_941601.1:n.3298G>C | ||
| XR_941602.1:n.3298G>C | ||
| XR_941603.1:n.3298G>C | ||
| XR_941604.1:n.3298G>C | ||
| NM_001330578.1:c.2845G>C | NP_001317507.1:p.Asp949His | |
| NM_001330579.1:c.2827G>C | NP_001317508.1:p.Asp943His | |
| XM_005266424.4:c.2983G>C | XP_005266481.1:p.Asp995His | |
| XM_005266430.4:c.3079G>C | XP_005266487.1:p.Asp1027His | |
| XM_005266431.4:c.3043G>C | XP_005266488.1:p.Asp1015His | |
| XM_006719837.3:c.2983G>C | XP_006719900.1:p.Asp995His | |
| XM_011535117.3:c.2983G>C | XP_011533419.1:p.Asp995His | |
| XM_017020627.1:c.2983G>C | XP_016876116.1:p.Asp995His | |
| NM_000053.4:c.3079G>C MANE Select | NP_000044.2:p.Asp1027His | |
| NM_001005918.3:c.2458G>C | NP_001005918.1:p.Asp820His | |
| NM_001330579.2:c.2827G>C | NP_001317508.1:p.Asp943His | |
| NM_001243182.2:c.2746G>C | NP_001230111.1:p.Asp916His | |
| NM_001330578.2:c.2845G>C | NP_001317507.1:p.Asp949His |