Linked Data
dbSNP Id:
rs576235742
ExAC:
13:52520542 A / C
gnomAD v2:
13-52520542-A-C
gnomAD v3:
13-51946406-A-C
gnomAD v4:
13-51946406-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51946406A>C , CM000675.2:g.51946406A>C | GRCh38 |
| NC_000013.10:g.52520542A>C , CM000675.1:g.52520542A>C | GRCh37 |
| NC_000013.9:g.51418543A>C | NCBI36 |
| NG_008806.1:g.70089T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*771T>G | ENSP00000489512.2:n.*771T>G | |
| ENST00000673864.2:c.*1682T>G | ENSP00000501045.2:n.*1682T>G | |
| ENST00000674147.2:c.2317T>G | ENSP00000500964.2:p.Cys773Gly | |
| ENST00000242839.10:c.2938T>G MANE Select | ENSP00000242839.5:p.Cys980Gly | |
| ENST00000344297.9:c.2317T>G | ENSP00000342559.5:p.Cys773Gly | |
| ENST00000400366.6:c.2605T>G | ENSP00000383217.3:p.Cys869Gly | |
| ENST00000448424.7:c.2686T>G | ENSP00000416738.3:p.Cys896Gly | |
| ENST00000673772.1:c.2704T>G | ENSP00000501168.1:p.Cys902Gly | |
| ENST00000673867.1:n.1085T>G | ||
| ENST00000674126.1:n.3301T>G | ||
| ENST00000674147.1:c.1873T>G | ENSP00000500964.1:p.Cys625Gly | |
| ENST00000242839.8:c.2938T>G | ENSP00000242839.4:p.Cys980Gly | |
| ENST00000344297.8:c.2317T>G | ENSP00000342559.5:p.Cys773Gly | |
| ENST00000400366.5:c.2605T>G | ENSP00000383217.3:p.Cys869Gly | |
| ENST00000400370.8:c.1648T>G | ENSP00000383221.3:p.Cys550Gly | |
| ENST00000418097.7:c.2866-2115T>G | ENSP00000393343.2:n.2866-2115T>G | |
| ENST00000448424.6:c.2704T>G | ENSP00000416738.2:p.Cys902Gly | |
| ENST00000466629.1:n.158T>G | ||
| ENST00000634296.1:c.899T>G | ||
| ENST00000634308.1:c.*39T>G | ENSP00000489234.1:n.*39T>G | |
| ENST00000634620.1:n.3682T>G | ||
| ENST00000634810.1:n.2283T>G | ||
| ENST00000634844.1:c.2794T>G | ENSP00000489398.1:p.Cys932Gly | |
| ENST00000635406.1:n.284T>G | ||
| NM_000053.3:c.2938T>G | NP_000044.2:p.Cys980Gly | |
| NM_001005918.2:c.2317T>G | NP_001005918.1:p.Cys773Gly | |
| NM_001243182.1:c.2605T>G | NP_001230111.1:p.Cys869Gly | |
| XM_005266423.2:c.2842T>G | XP_005266480.1:p.Cys948Gly | |
| XM_005266424.3:c.2842T>G | XP_005266481.1:p.Cys948Gly | |
| XM_005266427.2:c.2704T>G | XP_005266484.1:p.Cys902Gly | |
| XM_005266428.1:c.2686T>G | XP_005266485.1:p.Cys896Gly | |
| XM_005266430.3:c.2938T>G | XP_005266487.1:p.Cys980Gly | |
| XM_005266431.2:c.2902T>G | XP_005266488.1:p.Cys968Gly | |
| XM_005266432.2:c.2452T>G | XP_005266489.1:p.Cys818Gly | |
| XM_006719837.2:c.2842T>G | XP_006719900.1:p.Cys948Gly | |
| XM_006719838.1:c.754T>G | XP_006719901.1:p.Cys252Gly | |
| XM_006719839.1:c.754T>G | XP_006719902.1:p.Cys252Gly | |
| XM_011535117.1:c.2842T>G | XP_011533419.1:p.Cys948Gly | |
| XM_011535118.1:c.2803T>G | XP_011533420.1:p.Cys935Gly | |
| XM_011535119.1:c.2938T>G | XP_011533421.1:p.Cys980Gly | |
| XM_011535120.1:c.2524T>G | XP_011533422.1:p.Cys842Gly | |
| XM_011535121.1:c.2730+3601T>G | XP_011533423.1:n.2730+3601T>G | |
| XM_011535122.1:c.1606T>G | XP_011533424.1:p.Cys536Gly | |
| XR_941601.1:n.3157T>G | ||
| XR_941602.1:n.3157T>G | ||
| XR_941603.1:n.3157T>G | ||
| XR_941604.1:n.3157T>G | ||
| NM_001330578.1:c.2704T>G | NP_001317507.1:p.Cys902Gly | |
| NM_001330579.1:c.2686T>G | NP_001317508.1:p.Cys896Gly | |
| XM_005266424.4:c.2842T>G | XP_005266481.1:p.Cys948Gly | |
| XM_005266430.4:c.2938T>G | XP_005266487.1:p.Cys980Gly | |
| XM_005266431.4:c.2902T>G | XP_005266488.1:p.Cys968Gly | |
| XM_006719837.3:c.2842T>G | XP_006719900.1:p.Cys948Gly | |
| XM_011535117.3:c.2842T>G | XP_011533419.1:p.Cys948Gly | |
| XM_017020627.1:c.2842T>G | XP_016876116.1:p.Cys948Gly | |
| NM_000053.4:c.2938T>G MANE Select | NP_000044.2:p.Cys980Gly | |
| NM_001005918.3:c.2317T>G | NP_001005918.1:p.Cys773Gly | |
| NM_001330579.2:c.2686T>G | NP_001317508.1:p.Cys896Gly | |
| NM_001243182.2:c.2605T>G | NP_001230111.1:p.Cys869Gly | |
| NM_001330578.2:c.2704T>G | NP_001317507.1:p.Cys902Gly |