Linked Data
dbSNP Id:
rs753817623
ExAC:
7:30651883 C / A
gnomAD v2:
7-30651883-C-A
gnomAD v4:
7-30612267-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30612267C>A , CM000669.2:g.30612267C>A | GRCh38 |
| NC_000007.13:g.30651883C>A , CM000669.1:g.30651883C>A | GRCh37 |
| NC_000007.12:g.30618408C>A | NCBI36 |
| NG_007942.1:g.22703C>A , LRG_243:g.22703C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1031+22C>A MANE Select | ENSP00000373918.3:n.1031+22C>A | |
| ENST00000444666.6:c.1031+22C>A | ENSP00000415447.2:n.1031+22C>A | |
| ENST00000470392.2:n.1121+22C>A | ||
| ENST00000478124.6:n.1094+22C>A | ||
| ENST00000485784.2:n.1110+22C>A | ||
| ENST00000674616.1:c.*745+22C>A | ENSP00000502408.1:n.*745+22C>A | |
| ENST00000674643.1:c.1031+22C>A | ENSP00000501636.1:n.1031+22C>A | |
| ENST00000674734.1:n.1527+22C>A | ||
| ENST00000674737.1:c.*369+22C>A | ENSP00000502464.1:n.*369+22C>A | |
| ENST00000674807.1:c.1031+22C>A | ENSP00000502814.1:n.1031+22C>A | |
| ENST00000674815.1:c.662+22C>A | ENSP00000502799.1:n.662+22C>A | |
| ENST00000674851.1:c.662+22C>A | ENSP00000502451.1:n.662+22C>A | |
| ENST00000674969.1:n.2904+22C>A | ||
| ENST00000675051.1:c.830+22C>A | ENSP00000502296.1:n.830+22C>A | |
| ENST00000675529.1:c.*901+22C>A | ENSP00000501655.1:n.*901+22C>A | |
| ENST00000675587.1:n.1047+22C>A | ||
| ENST00000675651.1:c.1031+22C>A | ENSP00000502513.1:n.1031+22C>A | |
| ENST00000675693.1:c.863+22C>A | ENSP00000502174.1:n.863+22C>A | |
| ENST00000675810.1:c.929+22C>A | ENSP00000502743.1:n.929+22C>A | |
| ENST00000675859.1:c.1031+22C>A | ENSP00000502033.1:n.1031+22C>A | |
| ENST00000675863.1:n.1039+22C>A | ||
| ENST00000675886.1:n.7071+22C>A | ||
| ENST00000676088.1:c.*973+22C>A | ENSP00000501884.1:n.*973+22C>A | |
| ENST00000676140.1:c.1031+22C>A | ENSP00000502571.1:n.1031+22C>A | |
| ENST00000676164.1:c.*482+22C>A | ENSP00000501986.1:n.*482+22C>A | |
| ENST00000676210.1:c.*320+22C>A | ENSP00000502373.1:n.*320+22C>A | |
| ENST00000676259.1:c.*463+22C>A | ENSP00000501980.1:n.*463+22C>A | |
| ENST00000676403.1:c.1031+22C>A | ENSP00000502681.1:n.1031+22C>A | |
| ENST00000389266.7:c.1031+22C>A | ENSP00000373918.3:n.1031+22C>A | |
| ENST00000478124.5:n.1069+22C>A | ||
| NM_001316772.1:c.869+22C>A | NP_001303701.1:n.869+22C>A | |
| NM_002047.2:c.1031+22C>A , LRG_243t1:c.1031+22C>A | NP_002038.2:n.1031+22C>A | |
| NM_002047.3:c.1031+22C>A | NP_002038.2:n.1031+22C>A | |
| XM_006715686.1:c.662+22C>A | XP_006715749.1:n.662+22C>A | |
| XM_006715686.2:c.662+22C>A | XP_006715749.1:n.662+22C>A | |
| NM_002047.4:c.1031+22C>A MANE Select | NP_002038.2:n.1031+22C>A |