Linked Data
dbSNP Id:
rs59959366
ExAC:
13:52518375 C / T
gnomAD v2:
13-52518375-C-T
gnomAD v4:
13-51944239-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51944239C>T , CM000675.2:g.51944239C>T | GRCh38 |
| NC_000013.10:g.52518375C>T , CM000675.1:g.52518375C>T | GRCh37 |
| NC_000013.9:g.51416376C>T | NCBI36 |
| NG_008806.1:g.72256G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*894-1685G>A | ENSP00000489512.2:n.*894-1685G>A | |
| ENST00000673864.2:c.*1857G>A | ENSP00000501045.2:n.*1857G>A | |
| ENST00000674147.2:c.2492G>A | ENSP00000500964.2:p.Arg831Lys | |
| ENST00000242839.10:c.3113G>A MANE Select | ENSP00000242839.5:p.Arg1038Lys | |
| ENST00000344297.9:c.2492G>A | ENSP00000342559.5:p.Arg831Lys | |
| ENST00000400366.6:c.2780G>A | ENSP00000383217.3:p.Arg927Lys | |
| ENST00000448424.7:c.2861G>A | ENSP00000416738.3:p.Arg954Lys | |
| ENST00000673772.1:c.2879G>A | ENSP00000501168.1:p.Arg960Lys | |
| ENST00000673867.1:n.3252G>A | ||
| ENST00000674126.1:n.3476G>A | ||
| ENST00000674147.1:c.2048G>A | ENSP00000500964.1:p.Arg683Lys | |
| ENST00000242839.8:c.3113G>A | ENSP00000242839.4:p.Arg1038Lys | |
| ENST00000344297.8:c.2492G>A | ENSP00000342559.5:p.Arg831Lys | |
| ENST00000400366.5:c.2780G>A | ENSP00000383217.3:p.Arg927Lys | |
| ENST00000400370.8:c.1823G>A | ENSP00000383221.3:p.Arg608Lys | |
| ENST00000418097.7:c.2918G>A | ENSP00000393343.2:p.Arg973Lys | |
| ENST00000448424.6:c.2879G>A | ENSP00000416738.2:p.Arg960Lys | |
| ENST00000466629.1:n.333G>A | ||
| ENST00000634296.1:c.1022-1685G>A | ||
| ENST00000634308.1:c.*214G>A | ENSP00000489234.1:n.*214G>A | |
| ENST00000634620.1:n.3857G>A | ||
| ENST00000634810.1:n.2458G>A | ||
| ENST00000634844.1:c.2969G>A | ENSP00000489398.1:p.Arg990Lys | |
| ENST00000635406.1:n.459G>A | ||
| NM_000053.3:c.3113G>A | NP_000044.2:p.Arg1038Lys | |
| NM_001005918.2:c.2492G>A | NP_001005918.1:p.Arg831Lys | |
| NM_001243182.1:c.2780G>A | NP_001230111.1:p.Arg927Lys | |
| XM_005266423.2:c.3017G>A | XP_005266480.1:p.Arg1006Lys | |
| XM_005266424.3:c.3017G>A | XP_005266481.1:p.Arg1006Lys | |
| XM_005266427.2:c.2879G>A | XP_005266484.1:p.Arg960Lys | |
| XM_005266428.1:c.2861G>A | XP_005266485.1:p.Arg954Lys | |
| XM_005266430.3:c.3113G>A | XP_005266487.1:p.Arg1038Lys | |
| XM_005266431.2:c.3077G>A | XP_005266488.1:p.Arg1026Lys | |
| XM_005266432.2:c.2627G>A | XP_005266489.1:p.Arg876Lys | |
| XM_006719837.2:c.3017G>A | XP_006719900.1:p.Arg1006Lys | |
| XM_006719838.1:c.929G>A | XP_006719901.1:p.Arg310Lys | |
| XM_006719839.1:c.877-1685G>A | XP_006719902.1:n.877-1685G>A | |
| XM_011535117.1:c.3017G>A | XP_011533419.1:p.Arg1006Lys | |
| XM_011535118.1:c.2978G>A | XP_011533420.1:p.Arg993Lys | |
| XM_011535119.1:c.3061-1685G>A | XP_011533421.1:n.3061-1685G>A | |
| XM_011535120.1:c.2699G>A | XP_011533422.1:p.Arg900Lys | |
| XM_011535121.1:c.2731-1685G>A | XP_011533423.1:n.2731-1685G>A | |
| XM_011535122.1:c.1781G>A | XP_011533424.1:p.Arg594Lys | |
| XR_941601.1:n.3332G>A | ||
| XR_941602.1:n.3332G>A | ||
| XR_941603.1:n.3332G>A | ||
| XR_941604.1:n.3332G>A | ||
| NM_001330578.1:c.2879G>A | NP_001317507.1:p.Arg960Lys | |
| NM_001330579.1:c.2861G>A | NP_001317508.1:p.Arg954Lys | |
| XM_005266424.4:c.3017G>A | XP_005266481.1:p.Arg1006Lys | |
| XM_005266430.4:c.3113G>A | XP_005266487.1:p.Arg1038Lys | |
| XM_005266431.4:c.3077G>A | XP_005266488.1:p.Arg1026Lys | |
| XM_006719837.3:c.3017G>A | XP_006719900.1:p.Arg1006Lys | |
| XM_011535117.3:c.3017G>A | XP_011533419.1:p.Arg1006Lys | |
| XM_017020627.1:c.3017G>A | XP_016876116.1:p.Arg1006Lys | |
| NM_000053.4:c.3113G>A MANE Select | NP_000044.2:p.Arg1038Lys | |
| NM_001005918.3:c.2492G>A | NP_001005918.1:p.Arg831Lys | |
| NM_001330579.2:c.2861G>A | NP_001317508.1:p.Arg954Lys | |
| NM_001243182.2:c.2780G>A | NP_001230111.1:p.Arg927Lys | |
| NM_001330578.2:c.2879G>A | NP_001317507.1:p.Arg960Lys |