Linked Data
dbSNP Id:
rs772018426
gnomAD v2:
14-35559029-G-A
gnomAD v3:
14-35089823-G-A
gnomAD v4:
14-35089823-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35089823G>A , CM000676.2:g.35089823G>A | GRCh38 |
| NC_000014.8:g.35559029G>A , CM000676.1:g.35559029G>A | GRCh37 |
| NC_000014.7:g.34628780G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699514.1:c.*405-2271G>A (FAM177A1) | ENSP00000514409.1:n.*405-2271G>A | |
| ENST00000699515.1:c.*332-2271G>A (FAM177A1) | ENSP00000514410.1:n.*332-2271G>A | |
| ENST00000261475.10:c.1113+1247C>T (PPP2R3C) MANE Select | ENSP00000261475.5:n.1113+1247C>T | |
| ENST00000261475.9:c.1113+1247C>T (PPP2R3C) | ENSP00000261475.5:n.1113+1247C>T | |
| ENST00000553273.5:c.*779+1247C>T (PPP2R3C) | ENSP00000451075.1:n.*779+1247C>T | |
| ENST00000554222.5:c.*916+1247C>T (PPP2R3C) | ENSP00000451416.1:n.*916+1247C>T | |
| ENST00000555219.1:c.139-1813C>T (PPP2R3C) | ENSP00000452173.1:n.139-1813C>T | |
| ENST00000555260.1:c.479+8264G>A (FAM177A1) | ||
| ENST00000557074.1:c.110+1247C>T (PPP2R3C) | ||
| ENST00000557217.5:c.*916+1247C>T (PPP2R3C) | ENSP00000452436.1:n.*916+1247C>T | |
| NM_001305155.1:c.783+1247C>T (PPP2R3C) | NP_001292084.1:n.783+1247C>T | |
| NM_001305156.1:c.783+1247C>T (PPP2R3C) | NP_001292085.1:n.783+1247C>T | |
| NM_017917.2:c.1113+1247C>T (PPP2R3C) | NP_060387.2:n.1113+1247C>T | |
| NM_017917.3:c.1113+1247C>T (PPP2R3C) | NP_060387.2:n.1113+1247C>T | |
| NR_110415.1:n.479+8264G>A | ||
| NR_130972.1:n.1312+1247C>T (PPP2R3C) | ||
| XM_005267782.2:c.1113+1247C>T (PPP2R3C) | XP_005267839.1:n.1113+1247C>T | |
| XM_011536885.1:c.957+1247C>T (PPP2R3C) | XP_011535187.1:n.957+1247C>T | |
| XM_005267782.4:c.1113+1247C>T (PPP2R3C) | XP_005267839.1:n.1113+1247C>T | |
| XM_017021388.2:c.976-1813C>T (PPP2R3C) | XP_016876877.1:n.976-1813C>T | |
| XM_024449638.1:c.1020+1247C>T (PPP2R3C) | XP_024305406.1:n.1020+1247C>T | |
| XM_024449639.1:c.957+1247C>T (PPP2R3C) | XP_024305407.1:n.957+1247C>T | |
| XR_002957558.1:n.1439+1247C>T (PPP2R3C) | ||
| NM_001305155.2:c.783+1247C>T (PPP2R3C) | NP_001292084.1:n.783+1247C>T | |
| NM_001305156.2:c.783+1247C>T (PPP2R3C) | NP_001292085.1:n.783+1247C>T | |
| NM_017917.4:c.1113+1247C>T (PPP2R3C) MANE Select | NP_060387.2:n.1113+1247C>T | |
| NR_130972.2:n.1067+1247C>T (PPP2R3C) |