Linked Data
ClinVar Variation Id:
137439
ClinVar RCV Id:
RCV000125197
RCV000260650
RCV000297278
RCV000360161
RCV000576643
RCV000676706
RCV001172991
RCV001095272
dbSNP Id:
rs2072236
ExAC:
7:30634764 C / T
gnomAD v2:
7-30634764-C-T
gnomAD v3:
7-30595148-C-T
gnomAD v4:
7-30595148-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30595148C>T , CM000669.2:g.30595148C>T | GRCh38 |
| NC_000007.13:g.30634764C>T , CM000669.1:g.30634764C>T | GRCh37 |
| NC_000007.12:g.30601289C>T | NCBI36 |
| NG_007942.1:g.5584C>T , LRG_243:g.5584C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.222+5C>T MANE Select | ENSP00000373918.3:n.222+5C>T | |
| ENST00000444666.6:c.222+5C>T | ENSP00000415447.2:n.222+5C>T | |
| ENST00000454308.6:c.222+5C>T | ENSP00000392677.2:n.222+5C>T | |
| ENST00000470392.2:n.312+5C>T | ||
| ENST00000478124.6:n.285+5C>T | ||
| ENST00000485784.2:n.301+5C>T | ||
| ENST00000674616.1:c.222+5C>T | ENSP00000502408.1:n.222+5C>T | |
| ENST00000674643.1:c.222+5C>T | ENSP00000501636.1:n.222+5C>T | |
| ENST00000674737.1:c.222+5C>T | ENSP00000502464.1:n.222+5C>T | |
| ENST00000674807.1:c.222+5C>T | ENSP00000502814.1:n.222+5C>T | |
| ENST00000674815.1:c.-148+196C>T | ENSP00000502799.1:n.-148+196C>T | |
| ENST00000674851.1:c.-148+5C>T | ENSP00000502451.1:n.-148+5C>T | |
| ENST00000674969.1:n.262+5C>T | ||
| ENST00000675051.1:c.22-3648C>T | ENSP00000502296.1:n.22-3648C>T | |
| ENST00000675529.1:c.222+5C>T | ENSP00000501655.1:n.222+5C>T | |
| ENST00000675587.1:n.238+5C>T | ||
| ENST00000675651.1:c.222+5C>T | ENSP00000502513.1:n.222+5C>T | |
| ENST00000675693.1:c.54+5C>T | ENSP00000502174.1:n.54+5C>T | |
| ENST00000675810.1:c.222+5C>T | ENSP00000502743.1:n.222+5C>T | |
| ENST00000675859.1:c.222+5C>T | ENSP00000502033.1:n.222+5C>T | |
| ENST00000675863.1:n.230+5C>T | ||
| ENST00000675886.1:n.250+5C>T | ||
| ENST00000676088.1:c.222+5C>T | ENSP00000501884.1:n.222+5C>T | |
| ENST00000676140.1:c.222+5C>T | ENSP00000502571.1:n.222+5C>T | |
| ENST00000676164.1:c.222+5C>T | ENSP00000501986.1:n.222+5C>T | |
| ENST00000676210.1:c.222+5C>T | ENSP00000502373.1:n.222+5C>T | |
| ENST00000676259.1:c.222+5C>T | ENSP00000501980.1:n.222+5C>T | |
| ENST00000676403.1:c.222+5C>T | ENSP00000502681.1:n.222+5C>T | |
| ENST00000389266.7:c.222+5C>T | ENSP00000373918.3:n.222+5C>T | |
| ENST00000454308.5:c.222+5C>T | ENSP00000392677.1:n.222+5C>T | |
| ENST00000478124.5:n.260+5C>T | ||
| ENST00000627489.1:c.222+5C>T | ENSP00000485931.1:n.222+5C>T | |
| NM_001316772.1:c.60+5C>T | NP_001303701.1:n.60+5C>T | |
| NM_002047.2:c.222+5C>T , LRG_243t1:c.222+5C>T | NP_002038.2:n.222+5C>T | |
| NM_002047.3:c.222+5C>T | NP_002038.2:n.222+5C>T | |
| XM_006715686.2:c.-258+5C>T | XP_006715749.1:n.-258+5C>T | |
| NM_002047.4:c.222+5C>T MANE Select | NP_002038.2:n.222+5C>T |