Linked Data
ClinVar Variation Id:
315033
dbSNP Id:
rs559054925
gnomAD v2:
14-94854899-T-C
gnomAD v3:
14-94388562-T-C
gnomAD v4:
14-94388562-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94388562T>C , CM000676.2:g.94388562T>C | GRCh38 |
| NC_000014.8:g.94854899T>C , CM000676.1:g.94854899T>C | GRCh37 |
| NC_000014.7:g.93924652T>C | NCBI36 |
| NG_008290.1:g.7131A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393087.9:c.-7A>G MANE Select | ENSP00000376802.4:n.-7A>G | |
| ENST00000636712.1:c.-7A>G | ENSP00000490054.1:n.-7A>G | |
| ENST00000355814.8:c.-5+1858A>G | ENSP00000348068.4:n.-5+1858A>G | |
| ENST00000393087.8:c.-7A>G | ENSP00000376802.4:n.-7A>G | |
| ENST00000393088.8:c.-7A>G | ENSP00000376803.4:n.-7A>G | |
| ENST00000402629.1:c.-7A>G | ENSP00000386094.1:n.-7A>G | |
| ENST00000404814.8:c.-7A>G | ENSP00000385960.4:n.-7A>G | |
| ENST00000437397.5:c.-7A>G | ENSP00000408474.1:n.-7A>G | |
| ENST00000440909.5:c.-5+1895A>G | ENSP00000390299.1:n.-5+1895A>G | |
| ENST00000448921.5:c.-7A>G | ENSP00000416066.1:n.-7A>G | |
| ENST00000449399.7:c.-7A>G | ENSP00000416354.3:n.-7A>G | |
| ENST00000553327.5:c.-7A>G | ENSP00000452480.1:n.-7A>G | |
| ENST00000554720.1:c.-26A>G | ENSP00000450561.1:n.-26A>G | |
| ENST00000555289.5:n.491A>G | ||
| ENST00000556091.1:c.-145A>G | ENSP00000452169.1:n.-145A>G | |
| ENST00000556955.5:c.-5+1858A>G | ENSP00000451098.1:n.-5+1858A>G | |
| ENST00000557118.5:c.-7A>G | ENSP00000451826.1:n.-7A>G | |
| ENST00000557492.5:c.-7A>G | ENSP00000452452.1:n.-7A>G | |
| NM_000295.4:c.-7A>G | NP_000286.3:n.-7A>G | |
| NM_001002235.2:c.-5+1895A>G | NP_001002235.1:n.-5+1895A>G | |
| NM_001002236.2:c.-7A>G | NP_001002236.1:n.-7A>G | |
| NM_001127700.1:c.-5+1858A>G | NP_001121172.1:n.-5+1858A>G | |
| NM_001127701.1:c.-7A>G | NP_001121173.1:n.-7A>G | |
| NM_001127702.1:c.-7A>G | NP_001121174.1:n.-7A>G | |
| NM_001127703.1:c.-7A>G | NP_001121175.1:n.-7A>G | |
| NM_001127704.1:c.-7A>G | NP_001121176.1:n.-7A>G | |
| NM_001127705.1:c.-7A>G | NP_001121177.1:n.-7A>G | |
| NM_001127706.1:c.-7A>G | NP_001121178.1:n.-7A>G | |
| NM_001127707.1:c.-7A>G | NP_001121179.1:n.-7A>G | |
| XM_017021370.1:c.-145A>G | XP_016876859.1:n.-145A>G | |
| NM_000295.5:c.-7A>G MANE Select | NP_000286.3:n.-7A>G | |
| NM_001002235.3:c.-5+1895A>G | NP_001002235.1:n.-5+1895A>G | |
| NM_001002236.3:c.-7A>G | NP_001002236.1:n.-7A>G | |
| NM_001127700.2:c.-5+1858A>G | NP_001121172.1:n.-5+1858A>G | |
| NM_001127701.2:c.-7A>G | NP_001121173.1:n.-7A>G | |
| NM_001127702.2:c.-7A>G | NP_001121174.1:n.-7A>G | |
| NM_001127703.2:c.-7A>G | NP_001121175.1:n.-7A>G | |
| NM_001127704.2:c.-7A>G | NP_001121176.1:n.-7A>G | |
| NM_001127705.2:c.-7A>G | NP_001121177.1:n.-7A>G | |
| NM_001127706.2:c.-7A>G | NP_001121178.1:n.-7A>G | |
| NM_001127707.2:c.-7A>G | NP_001121179.1:n.-7A>G |