Linked Data
ClinVar Variation Id:
312405
dbSNP Id:
rs2277448
gnomAD v2:
13-52585548-G-T
gnomAD v3:
13-52011412-G-T
gnomAD v4:
13-52011412-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52011412G>T , CM000675.2:g.52011412G>T | GRCh38 |
| NC_000013.10:g.52585548G>T , CM000675.1:g.52585548G>T | GRCh37 |
| NC_000013.9:g.51483549G>T | NCBI36 |
| NG_008806.1:g.5083C>A | |
| NG_028038.1:g.4026G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.-75C>A | ENSP00000489512.2:n.-75C>A | |
| ENST00000673864.2:c.-75C>A | ENSP00000501045.2:n.-75C>A | |
| ENST00000674147.2:c.-75C>A | ENSP00000500964.2:n.-75C>A | |
| ENST00000242839.10:c.-75C>A MANE Select | ENSP00000242839.5:n.-75C>A | |
| ENST00000344297.9:c.-75C>A | ENSP00000342559.5:n.-75C>A | |
| ENST00000448424.7:c.-75C>A | ENSP00000416738.3:n.-75C>A | |
| ENST00000674078.1:n.31C>A | ||
| ENST00000242839.8:c.-75C>A | ENSP00000242839.4:n.-75C>A | |
| ENST00000400366.5:c.-75C>A | ENSP00000383217.3:n.-75C>A | |
| ENST00000448424.6:c.-75C>A | ENSP00000416738.2:n.-75C>A | |
| ENST00000635406.1:n.107-21C>A | ||
| NM_000053.3:c.-75C>A | NP_000044.2:n.-75C>A | |
| NM_001005918.2:c.-75C>A | NP_001005918.1:n.-75C>A | |
| NM_001243182.1:c.-75C>A | NP_001230111.1:n.-75C>A | |
| XM_005266427.2:c.-75C>A | XP_005266484.1:n.-75C>A | |
| XM_005266428.1:c.-75C>A | XP_005266485.1:n.-75C>A | |
| XM_005266430.3:c.-54-21C>A | XP_005266487.1:n.-54-21C>A | |
| XM_005266432.2:c.-75C>A | XP_005266489.1:n.-75C>A | |
| XM_011535118.1:c.-75C>A | XP_011533420.1:n.-75C>A | |
| XM_011535119.1:c.-75C>A | XP_011533421.1:n.-75C>A | |
| XM_011535120.1:c.-75C>A | XP_011533422.1:n.-75C>A | |
| XM_011535121.1:c.-75C>A | XP_011533423.1:n.-75C>A | |
| XR_941601.1:n.145C>A | ||
| XR_941602.1:n.145C>A | ||
| XR_941603.1:n.145C>A | ||
| XR_941604.1:n.145C>A | ||
| NM_001330578.1:c.-75C>A | NP_001317507.1:n.-75C>A | |
| NM_001330579.1:c.-75C>A | NP_001317508.1:n.-75C>A | |
| XM_005266430.4:c.-54-21C>A | XP_005266487.1:n.-54-21C>A | |
| NM_000053.4:c.-75C>A MANE Select | NP_000044.2:n.-75C>A | |
| NM_001005918.3:c.-75C>A | NP_001005918.1:n.-75C>A | |
| NM_001330579.2:c.-75C>A | NP_001317508.1:n.-75C>A | |
| NM_001243182.2:c.-75C>A | NP_001230111.1:n.-75C>A | |
| NM_001330578.2:c.-75C>A | NP_001317507.1:n.-75C>A |