Linked Data
ClinVar Variation Id:
315022
dbSNP Id:
rs72547410
ExAC:
14:94844785 G / A
gnomAD v2:
14-94844785-G-A
gnomAD v3:
14-94378448-G-A
gnomAD v4:
14-94378448-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94378448G>A , CM000676.2:g.94378448G>A | GRCh38 |
| NC_000014.8:g.94844785G>A , CM000676.1:g.94844785G>A | GRCh37 |
| NC_000014.7:g.93914538G>A | NCBI36 |
| NG_008290.1:g.17245C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393087.9:c.*1C>T MANE Select | ENSP00000376802.4:n.*1C>T | |
| ENST00000636712.1:c.*1C>T | ENSP00000490054.1:n.*1C>T | |
| ENST00000355814.8:c.*1C>T | ENSP00000348068.4:n.*1C>T | |
| ENST00000393087.8:c.*1C>T | ENSP00000376802.4:n.*1C>T | |
| ENST00000393088.8:c.*1C>T | ENSP00000376803.4:n.*1C>T | |
| ENST00000404814.8:c.*1C>T | ENSP00000385960.4:n.*1C>T | |
| ENST00000437397.5:c.*1C>T | ENSP00000408474.1:n.*1C>T | |
| ENST00000440909.5:c.*1C>T | ENSP00000390299.1:n.*1C>T | |
| ENST00000448921.5:c.*1C>T | ENSP00000416066.1:n.*1C>T | |
| ENST00000489769.1:c.*557C>T | ENSP00000451525.1:n.*557C>T | |
| NM_000295.4:c.*1C>T | NP_000286.3:n.*1C>T | |
| NM_001002235.2:c.*1C>T | NP_001002235.1:n.*1C>T | |
| NM_001002236.2:c.*1C>T | NP_001002236.1:n.*1C>T | |
| NM_001127700.1:c.*1C>T | NP_001121172.1:n.*1C>T | |
| NM_001127701.1:c.*1C>T | NP_001121173.1:n.*1C>T | |
| NM_001127702.1:c.*1C>T | NP_001121174.1:n.*1C>T | |
| NM_001127703.1:c.*1C>T | NP_001121175.1:n.*1C>T | |
| NM_001127704.1:c.*1C>T | NP_001121176.1:n.*1C>T | |
| NM_001127705.1:c.*1C>T | NP_001121177.1:n.*1C>T | |
| NM_001127706.1:c.*1C>T | NP_001121178.1:n.*1C>T | |
| NM_001127707.1:c.*1C>T | NP_001121179.1:n.*1C>T | |
| XM_017021370.1:c.*1C>T | XP_016876859.1:n.*1C>T | |
| NM_000295.5:c.*1C>T MANE Select | NP_000286.3:n.*1C>T | |
| NM_001002235.3:c.*1C>T | NP_001002235.1:n.*1C>T | |
| NM_001002236.3:c.*1C>T | NP_001002236.1:n.*1C>T | |
| NM_001127700.2:c.*1C>T | NP_001121172.1:n.*1C>T | |
| NM_001127701.2:c.*1C>T | NP_001121173.1:n.*1C>T | |
| NM_001127702.2:c.*1C>T | NP_001121174.1:n.*1C>T | |
| NM_001127703.2:c.*1C>T | NP_001121175.1:n.*1C>T | |
| NM_001127704.2:c.*1C>T | NP_001121176.1:n.*1C>T | |
| NM_001127705.2:c.*1C>T | NP_001121177.1:n.*1C>T | |
| NM_001127706.2:c.*1C>T | NP_001121178.1:n.*1C>T | |
| NM_001127707.2:c.*1C>T | NP_001121179.1:n.*1C>T |