Linked Data
dbSNP Id:
rs2004640
gnomAD v3:
7-128938247-T-G
gnomAD v4:
7-128938247-T-G
MyVariant Identifiers:
chr7:g.128938247T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128938247T>G , CM000669.2:g.128938247T>G | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700148.1:n.52+413T>G | ||
| ENST00000357234.10:c.-12+198T>G MANE Select | ENSP00000349770.5:n.-12+198T>G | |
| ENST00000489702.6:c.-12+413T>G | ENSP00000418037.2:n.-12+413T>G | |
| ENST00000650798.1:n.29+2T>G | ||
| ENST00000652142.1:n.21+198T>G | ||
| ENST00000652525.1:c.-12+553T>G | ENSP00000498293.1:n.-12+553T>G | |
| ENST00000249375.8:c.-12+2T>G | ENSP00000249375.4:n.-12+2T>G | |
| ENST00000357234.9:c.-12+198T>G | ENSP00000349770.5:n.-12+198T>G | |
| ENST00000402030.6:c.-12+198T>G | ENSP00000385352.2:n.-12+198T>G | |
| ENST00000461416.1:n.69+198T>G | ||
| ENST00000464557.5:c.-158+198T>G | ENSP00000419056.1:n.-158+198T>G | |
| ENST00000473787.5:c.-12+198T>G | ENSP00000420274.1:n.-12+198T>G | |
| ENST00000477535.5:c.-12+198T>G | ENSP00000419950.1:n.-12+198T>G | |
| ENST00000479582.5:c.-125+198T>G | ENSP00000417770.1:n.-125+198T>G | |
| ENST00000488569.5:n.113+198T>G | ||
| ENST00000489702.5:c.-12+413T>G | ENSP00000418037.1:n.-12+413T>G | |
| ENST00000613821.4:c.-12+198T>G | ENSP00000480058.1:n.-12+198T>G | |
| NM_001098629.2:c.-12+198T>G | NP_001092099.1:n.-12+198T>G | |
| NM_001098630.2:c.-12+198T>G | NP_001092100.1:n.-12+198T>G | |
| NM_001242452.2:c.-12+198T>G | NP_001229381.1:n.-12+198T>G | |
| NM_032643.4:c.-12+2T>G | NP_116032.1:n.-12+2T>G | |
| XM_006715974.2:c.-12+2T>G | XP_006716037.1:n.-12+2T>G | |
| XM_011516160.1:c.-12+413T>G | XP_011514462.1:n.-12+413T>G | |
| XM_011516161.1:c.-12+198T>G | XP_011514463.1:n.-12+198T>G | |
| XM_011516162.1:c.-12+198T>G | XP_011514464.1:n.-12+198T>G | |
| XM_011516164.1:c.-12+2T>G | XP_011514466.1:n.-12+2T>G | |
| NM_001347928.1:c.-12+982T>G | NP_001334857.1:n.-12+982T>G | |
| NM_001098629.3:c.-12+198T>G MANE Select | NP_001092099.1:n.-12+198T>G | |
| NM_001098630.3:c.-12+198T>G | NP_001092100.1:n.-12+198T>G | |
| NM_001242452.3:c.-12+198T>G | NP_001229381.1:n.-12+198T>G | |
| NM_001347928.2:c.-12+982T>G | NP_001334857.1:n.-12+982T>G | |
| NM_032643.5:c.-12+2T>G | NP_116032.1:n.-12+2T>G |