Linked Data
dbSNP Id:
rs17751769
gnomAD v2:
14-94856657-G-A
gnomAD v3:
14-94390320-G-A
gnomAD v4:
14-94390320-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94390320G>A , CM000676.2:g.94390320G>A | GRCh38 |
| NC_000014.8:g.94856657G>A , CM000676.1:g.94856657G>A | GRCh37 |
| NC_000014.7:g.93926410G>A | NCBI36 |
| NG_008290.1:g.5373C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355814.8:c.-5+100C>T | ENSP00000348068.4:n.-5+100C>T | |
| ENST00000393088.8:c.-319+137C>T | ENSP00000376803.4:n.-319+137C>T | |
| ENST00000404814.8:c.-106+137C>T | ENSP00000385960.4:n.-106+137C>T | |
| ENST00000437397.5:c.-109+100C>T | ENSP00000408474.1:n.-109+100C>T | |
| ENST00000440909.5:c.-5+137C>T | ENSP00000390299.1:n.-5+137C>T | |
| ENST00000448921.5:c.-301+100C>T | ENSP00000416066.1:n.-301+100C>T | |
| ENST00000449399.7:c.-109+137C>T | ENSP00000416354.3:n.-109+137C>T | |
| ENST00000553327.5:c.-109+100C>T | ENSP00000452480.1:n.-109+100C>T | |
| ENST00000555289.5:n.179+137C>T | ||
| ENST00000556955.5:c.-5+100C>T | ENSP00000451098.1:n.-5+100C>T | |
| ENST00000557093.1:n.179+137C>T | ||
| ENST00000557118.5:c.-301+100C>T | ENSP00000451826.1:n.-301+100C>T | |
| ENST00000557361.5:n.179+137C>T | ||
| ENST00000557492.5:c.-298+137C>T | ENSP00000452452.1:n.-298+137C>T | |
| NM_001002235.2:c.-5+137C>T | NP_001002235.1:n.-5+137C>T | |
| NM_001002236.2:c.-319+137C>T | NP_001002236.1:n.-319+137C>T | |
| NM_001127700.1:c.-5+100C>T | NP_001121172.1:n.-5+100C>T | |
| NM_001127701.1:c.-301+100C>T | NP_001121173.1:n.-301+100C>T | |
| NM_001127702.1:c.-109+100C>T | NP_001121174.1:n.-109+100C>T | |
| NM_001127703.1:c.-301+137C>T | NP_001121175.1:n.-301+137C>T | |
| NM_001127704.1:c.-298+137C>T | NP_001121176.1:n.-298+137C>T | |
| NM_001127705.1:c.-316+137C>T | NP_001121177.1:n.-316+137C>T | |
| NM_001127706.1:c.-109+137C>T | NP_001121178.1:n.-109+137C>T | |
| NM_001127707.1:c.-106+137C>T | NP_001121179.1:n.-106+137C>T | |
| XM_017021370.1:c.-244+137C>T | XP_016876859.1:n.-244+137C>T | |
| NM_001002235.3:c.-5+137C>T | NP_001002235.1:n.-5+137C>T | |
| NM_001002236.3:c.-319+137C>T | NP_001002236.1:n.-319+137C>T | |
| NM_001127700.2:c.-5+100C>T | NP_001121172.1:n.-5+100C>T | |
| NM_001127701.2:c.-301+100C>T | NP_001121173.1:n.-301+100C>T | |
| NM_001127702.2:c.-109+100C>T | NP_001121174.1:n.-109+100C>T | |
| NM_001127703.2:c.-301+137C>T | NP_001121175.1:n.-301+137C>T | |
| NM_001127704.2:c.-298+137C>T | NP_001121176.1:n.-298+137C>T | |
| NM_001127705.2:c.-316+137C>T | NP_001121177.1:n.-316+137C>T | |
| NM_001127706.2:c.-109+137C>T | NP_001121178.1:n.-109+137C>T | |
| NM_001127707.2:c.-106+137C>T | NP_001121179.1:n.-106+137C>T |