Linked Data
ClinVar Variation Id:
254766
dbSNP Id:
rs746358240
ExAC:
13:52520504 G / T
gnomAD v2:
13-52520504-G-T
gnomAD v3:
13-51946368-G-T
gnomAD v4:
13-51946368-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51946368G>T , CM000675.2:g.51946368G>T | GRCh38 |
| NC_000013.10:g.52520504G>T , CM000675.1:g.52520504G>T | GRCh37 |
| NC_000013.9:g.51418505G>T | NCBI36 |
| NG_008806.1:g.70127C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*809C>A | ENSP00000489512.2:n.*809C>A | |
| ENST00000673864.2:c.*1720C>A | ENSP00000501045.2:n.*1720C>A | |
| ENST00000674147.2:c.2355C>A | ENSP00000500964.2:p.Pro785= | |
| ENST00000242839.10:c.2976C>A MANE Select | ENSP00000242839.5:p.Pro992= | |
| ENST00000344297.9:c.2355C>A | ENSP00000342559.5:p.Pro785= | |
| ENST00000400366.6:c.2643C>A | ENSP00000383217.3:p.Pro881= | |
| ENST00000448424.7:c.2724C>A | ENSP00000416738.3:p.Pro908= | |
| ENST00000673772.1:c.2742C>A | ENSP00000501168.1:p.Pro914= | |
| ENST00000673867.1:n.1123C>A | ||
| ENST00000674126.1:n.3339C>A | ||
| ENST00000674147.1:c.1911C>A | ENSP00000500964.1:p.Pro637= | |
| ENST00000242839.8:c.2976C>A | ENSP00000242839.4:p.Pro992= | |
| ENST00000344297.8:c.2355C>A | ENSP00000342559.5:p.Pro785= | |
| ENST00000400366.5:c.2643C>A | ENSP00000383217.3:p.Pro881= | |
| ENST00000400370.8:c.1686C>A | ENSP00000383221.3:p.Pro562= | |
| ENST00000418097.7:c.2866-2077C>A | ENSP00000393343.2:n.2866-2077C>A | |
| ENST00000448424.6:c.2742C>A | ENSP00000416738.2:p.Pro914= | |
| ENST00000466629.1:n.196C>A | ||
| ENST00000634296.1:c.937C>A | ||
| ENST00000634308.1:c.*77C>A | ENSP00000489234.1:n.*77C>A | |
| ENST00000634620.1:n.3720C>A | ||
| ENST00000634810.1:n.2321C>A | ||
| ENST00000634844.1:c.2832C>A | ENSP00000489398.1:p.Pro944= | |
| ENST00000635406.1:n.322C>A | ||
| NM_000053.3:c.2976C>A | NP_000044.2:p.Pro992= | |
| NM_001005918.2:c.2355C>A | NP_001005918.1:p.Pro785= | |
| NM_001243182.1:c.2643C>A | NP_001230111.1:p.Pro881= | |
| XM_005266423.2:c.2880C>A | XP_005266480.1:p.Pro960= | |
| XM_005266424.3:c.2880C>A | XP_005266481.1:p.Pro960= | |
| XM_005266427.2:c.2742C>A | XP_005266484.1:p.Pro914= | |
| XM_005266428.1:c.2724C>A | XP_005266485.1:p.Pro908= | |
| XM_005266430.3:c.2976C>A | XP_005266487.1:p.Pro992= | |
| XM_005266431.2:c.2940C>A | XP_005266488.1:p.Pro980= | |
| XM_005266432.2:c.2490C>A | XP_005266489.1:p.Pro830= | |
| XM_006719837.2:c.2880C>A | XP_006719900.1:p.Pro960= | |
| XM_006719838.1:c.792C>A | XP_006719901.1:p.Pro264= | |
| XM_006719839.1:c.792C>A | XP_006719902.1:p.Pro264= | |
| XM_011535117.1:c.2880C>A | XP_011533419.1:p.Pro960= | |
| XM_011535118.1:c.2841C>A | XP_011533420.1:p.Pro947= | |
| XM_011535119.1:c.2976C>A | XP_011533421.1:p.Pro992= | |
| XM_011535120.1:c.2562C>A | XP_011533422.1:p.Pro854= | |
| XM_011535121.1:c.2730+3639C>A | XP_011533423.1:n.2730+3639C>A | |
| XM_011535122.1:c.1644C>A | XP_011533424.1:p.Pro548= | |
| XR_941601.1:n.3195C>A | ||
| XR_941602.1:n.3195C>A | ||
| XR_941603.1:n.3195C>A | ||
| XR_941604.1:n.3195C>A | ||
| NM_001330578.1:c.2742C>A | NP_001317507.1:p.Pro914= | |
| NM_001330579.1:c.2724C>A | NP_001317508.1:p.Pro908= | |
| XM_005266424.4:c.2880C>A | XP_005266481.1:p.Pro960= | |
| XM_005266430.4:c.2976C>A | XP_005266487.1:p.Pro992= | |
| XM_005266431.4:c.2940C>A | XP_005266488.1:p.Pro980= | |
| XM_006719837.3:c.2880C>A | XP_006719900.1:p.Pro960= | |
| XM_011535117.3:c.2880C>A | XP_011533419.1:p.Pro960= | |
| XM_017020627.1:c.2880C>A | XP_016876116.1:p.Pro960= | |
| NM_000053.4:c.2976C>A MANE Select | NP_000044.2:p.Pro992= | |
| NM_001005918.3:c.2355C>A | NP_001005918.1:p.Pro785= | |
| NM_001330579.2:c.2724C>A | NP_001317508.1:p.Pro908= | |
| NM_001243182.2:c.2643C>A | NP_001230111.1:p.Pro881= | |
| NM_001330578.2:c.2742C>A | NP_001317507.1:p.Pro914= |