Linked Data
dbSNP Id:
rs756276908
ExAC:
7:30661102 C / A
gnomAD v2:
7-30661102-C-A
gnomAD v4:
7-30621486-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30621486C>A , CM000669.2:g.30621486C>A | GRCh38 |
| NC_000007.13:g.30661102C>A , CM000669.1:g.30661102C>A | GRCh37 |
| NC_000007.12:g.30627627C>A | NCBI36 |
| NG_007942.1:g.31922C>A , LRG_243:g.31922C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1453C>A MANE Select | ENSP00000373918.3:p.Pro485Thr | |
| ENST00000444666.6:c.1453C>A | ENSP00000415447.2:p.Pro485Thr | |
| ENST00000470392.2:n.1543C>A | ||
| ENST00000478124.6:n.1516C>A | ||
| ENST00000485784.2:n.1532C>A | ||
| ENST00000674616.1:c.*1167C>A | ENSP00000502408.1:n.*1167C>A | |
| ENST00000674643.1:c.*553C>A | ENSP00000501636.1:n.*553C>A | |
| ENST00000674734.1:n.1949C>A | ||
| ENST00000674737.1:c.*791C>A | ENSP00000502464.1:n.*791C>A | |
| ENST00000674807.1:c.1453C>A | ENSP00000502814.1:p.Pro485Thr | |
| ENST00000674815.1:c.1084C>A | ENSP00000502799.1:p.Pro362Thr | |
| ENST00000674851.1:c.1084C>A | ENSP00000502451.1:p.Pro362Thr | |
| ENST00000674969.1:n.3326C>A | ||
| ENST00000675051.1:c.1252C>A | ENSP00000502296.1:p.Pro418Thr | |
| ENST00000675529.1:c.*1323C>A | ENSP00000501655.1:n.*1323C>A | |
| ENST00000675587.1:n.1469C>A | ||
| ENST00000675651.1:c.1453C>A | ENSP00000502513.1:p.Pro485Thr | |
| ENST00000675693.1:c.1285C>A | ENSP00000502174.1:p.Pro429Thr | |
| ENST00000675810.1:c.1351C>A | ENSP00000502743.1:p.Pro451Thr | |
| ENST00000675859.1:c.1453C>A | ENSP00000502033.1:p.Pro485Thr | |
| ENST00000675863.1:n.1461C>A | ||
| ENST00000675886.1:n.7493C>A | ||
| ENST00000676088.1:c.*1395C>A | ENSP00000501884.1:n.*1395C>A | |
| ENST00000676140.1:c.*398C>A | ENSP00000502571.1:n.*398C>A | |
| ENST00000676164.1:c.*904C>A | ENSP00000501986.1:n.*904C>A | |
| ENST00000676210.1:c.*742C>A | ENSP00000502373.1:n.*742C>A | |
| ENST00000676259.1:c.*885C>A | ENSP00000501980.1:n.*885C>A | |
| ENST00000676403.1:c.1453C>A | ENSP00000502681.1:p.Pro485Thr | |
| ENST00000389266.7:c.1453C>A | ENSP00000373918.3:p.Pro485Thr | |
| ENST00000478124.5:n.1491C>A | ||
| ENST00000484093.1:n.452C>A | ||
| NM_001316772.1:c.1291C>A | NP_001303701.1:p.Pro431Thr | |
| NM_002047.2:c.1453C>A , LRG_243t1:c.1453C>A | NP_002038.2:p.Pro485Thr | |
| NM_002047.3:c.1453C>A | NP_002038.2:p.Pro485Thr | |
| XM_006715686.1:c.1084C>A | XP_006715749.1:p.Pro362Thr | |
| XM_006715686.2:c.1084C>A | XP_006715749.1:p.Pro362Thr | |
| NM_002047.4:c.1453C>A MANE Select | NP_002038.2:p.Pro485Thr |