Linked Data
dbSNP Id:
rs41298401
gnomAD v2:
7-128578307-C-G
gnomAD v3:
7-128938253-C-G
gnomAD v4:
7-128938253-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128938253C>G , CM000669.2:g.128938253C>G | GRCh38 |
| NC_000007.13:g.128578307C>G , CM000669.1:g.128578307C>G | GRCh37 |
| NC_000007.12:g.128365543C>G | NCBI36 |
| NG_012306.1:g.5314C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700148.1:n.52+419C>G | ||
| ENST00000357234.10:c.-12+204C>G MANE Select | ENSP00000349770.5:n.-12+204C>G | |
| ENST00000489702.6:c.-12+419C>G | ENSP00000418037.2:n.-12+419C>G | |
| ENST00000650798.1:n.29+8C>G | ||
| ENST00000652142.1:n.21+204C>G | ||
| ENST00000652525.1:c.-12+559C>G | ENSP00000498293.1:n.-12+559C>G | |
| ENST00000249375.8:c.-12+8C>G | ENSP00000249375.4:n.-12+8C>G | |
| ENST00000357234.9:c.-12+204C>G | ENSP00000349770.5:n.-12+204C>G | |
| ENST00000402030.6:c.-12+204C>G | ENSP00000385352.2:n.-12+204C>G | |
| ENST00000461416.1:n.69+204C>G | ||
| ENST00000464557.5:c.-158+204C>G | ENSP00000419056.1:n.-158+204C>G | |
| ENST00000473787.5:c.-12+204C>G | ENSP00000420274.1:n.-12+204C>G | |
| ENST00000477535.5:c.-12+204C>G | ENSP00000419950.1:n.-12+204C>G | |
| ENST00000479582.5:c.-125+204C>G | ENSP00000417770.1:n.-125+204C>G | |
| ENST00000488569.5:n.113+204C>G | ||
| ENST00000489702.5:c.-12+419C>G | ENSP00000418037.1:n.-12+419C>G | |
| ENST00000613821.4:c.-12+204C>G | ENSP00000480058.1:n.-12+204C>G | |
| NM_001098629.2:c.-12+204C>G | NP_001092099.1:n.-12+204C>G | |
| NM_001098630.2:c.-12+204C>G | NP_001092100.1:n.-12+204C>G | |
| NM_001242452.2:c.-12+204C>G | NP_001229381.1:n.-12+204C>G | |
| NM_032643.4:c.-12+8C>G | NP_116032.1:n.-12+8C>G | |
| XM_006715974.2:c.-12+8C>G | XP_006716037.1:n.-12+8C>G | |
| XM_011516160.1:c.-12+419C>G | XP_011514462.1:n.-12+419C>G | |
| XM_011516161.1:c.-12+204C>G | XP_011514463.1:n.-12+204C>G | |
| XM_011516162.1:c.-12+204C>G | XP_011514464.1:n.-12+204C>G | |
| XM_011516164.1:c.-12+8C>G | XP_011514466.1:n.-12+8C>G | |
| NM_001347928.1:c.-12+988C>G | NP_001334857.1:n.-12+988C>G | |
| NM_001098629.3:c.-12+204C>G MANE Select | NP_001092099.1:n.-12+204C>G | |
| NM_001098630.3:c.-12+204C>G | NP_001092100.1:n.-12+204C>G | |
| NM_001242452.3:c.-12+204C>G | NP_001229381.1:n.-12+204C>G | |
| NM_001347928.2:c.-12+988C>G | NP_001334857.1:n.-12+988C>G | |
| NM_032643.5:c.-12+8C>G | NP_116032.1:n.-12+8C>G |