Linked Data
dbSNP Id:
rs3807306
gnomAD v3:
7-128940626-G-A
gnomAD v4:
7-128940626-G-A
COSMIC:
COSN19686454
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128940626G>A , CM000669.2:g.128940626G>A | GRCh38 |
| NC_000007.13:g.128580680G>A , CM000669.1:g.128580680G>A | GRCh37 |
| NC_000007.12:g.128367916G>A | NCBI36 |
| NG_012306.1:g.7687G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700148.1:n.53-1445G>A | ||
| ENST00000700149.1:c.-124-653G>A | ENSP00000514825.1:n.-124-653G>A | |
| ENST00000700150.1:c.-12+1203G>A | ENSP00000514826.1:n.-12+1203G>A | |
| ENST00000357234.10:c.-11-1445G>A MANE Select | ENSP00000349770.5:n.-11-1445G>A | |
| ENST00000489702.6:c.-11-1445G>A | ENSP00000418037.2:n.-11-1445G>A | |
| ENST00000650798.1:n.30-1445G>A | ||
| ENST00000652142.1:n.22-1445G>A | ||
| ENST00000652525.1:c.-11-1445G>A | ENSP00000498293.1:n.-11-1445G>A | |
| ENST00000249375.8:c.-11-1445G>A | ENSP00000249375.4:n.-11-1445G>A | |
| ENST00000357234.9:c.-11-1445G>A | ENSP00000349770.5:n.-11-1445G>A | |
| ENST00000402030.6:c.-11-1445G>A | ENSP00000385352.2:n.-11-1445G>A | |
| ENST00000461416.1:n.70-1445G>A | ||
| ENST00000464557.5:c.-157-653G>A | ENSP00000419056.1:n.-157-653G>A | |
| ENST00000467002.1:c.-125+163G>A | ENSP00000417454.1:n.-125+163G>A | |
| ENST00000473787.5:c.-11-1445G>A | ENSP00000420274.1:n.-11-1445G>A | |
| ENST00000477535.5:c.-11-1445G>A | ENSP00000419950.1:n.-11-1445G>A | |
| ENST00000479582.5:c.-124-653G>A | ENSP00000417770.1:n.-124-653G>A | |
| ENST00000488569.5:n.114-1445G>A | ||
| ENST00000489702.5:c.-11-1445G>A | ENSP00000418037.1:n.-11-1445G>A | |
| ENST00000613821.4:c.-11-1445G>A | ENSP00000480058.1:n.-11-1445G>A | |
| NM_001098629.2:c.-11-1445G>A | NP_001092099.1:n.-11-1445G>A | |
| NM_001098630.2:c.-11-1445G>A | NP_001092100.1:n.-11-1445G>A | |
| NM_001242452.2:c.-11-1445G>A | NP_001229381.1:n.-11-1445G>A | |
| NM_032643.4:c.-11-1445G>A | NP_116032.1:n.-11-1445G>A | |
| XM_006715974.2:c.-11-1445G>A | XP_006716037.1:n.-11-1445G>A | |
| XM_011516158.1:c.-261G>A | XP_011514460.1:n.-261G>A | |
| XM_011516160.1:c.-11-1445G>A | XP_011514462.1:n.-11-1445G>A | |
| XM_011516161.1:c.-11-1445G>A | XP_011514463.1:n.-11-1445G>A | |
| XM_011516162.1:c.-11-1445G>A | XP_011514464.1:n.-11-1445G>A | |
| XM_011516164.1:c.-11-1445G>A | XP_011514466.1:n.-11-1445G>A | |
| NM_001347928.1:c.-11-1445G>A | NP_001334857.1:n.-11-1445G>A | |
| XM_011516158.3:c.-261G>A | XP_011514460.1:n.-261G>A | |
| NM_001098629.3:c.-11-1445G>A MANE Select | NP_001092099.1:n.-11-1445G>A | |
| NM_001098630.3:c.-11-1445G>A | NP_001092100.1:n.-11-1445G>A | |
| NM_001242452.3:c.-11-1445G>A | NP_001229381.1:n.-11-1445G>A | |
| NM_001347928.2:c.-11-1445G>A | NP_001334857.1:n.-11-1445G>A | |
| NM_032643.5:c.-11-1445G>A | NP_116032.1:n.-11-1445G>A |