Linked Data
ClinVar Variation Id:
496825
dbSNP Id:
rs117651205
ExAC:
7:65554368 G / T
gnomAD v2:
7-65554368-G-T
gnomAD v3:
7-66089381-G-T
gnomAD v4:
7-66089381-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66089381G>T , CM000669.2:g.66089381G>T | GRCh38 |
| NC_000007.13:g.65554368G>T , CM000669.1:g.65554368G>T | GRCh37 |
| NC_000007.12:g.65191803G>T | NCBI36 |
| NG_009288.1:g.18593G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.978+46G>T MANE Select | ENSP00000307188.9:n.978+46G>T | |
| ENST00000362000.10:c.783+46G>T | ENSP00000354710.6:n.783+46G>T | |
| ENST00000380839.9:c.900+46G>T | ENSP00000370219.4:n.900+46G>T | |
| ENST00000395331.4:c.918+206G>T | ENSP00000378740.3:n.918+206G>T | |
| ENST00000395332.8:c.978+46G>T | ENSP00000378741.3:n.978+46G>T | |
| ENST00000488343.2:c.147+46G>T | ENSP00000500864.1:n.147+46G>T | |
| ENST00000671817.1:c.900+46G>T | ENSP00000500462.1:n.900+46G>T | |
| ENST00000672498.1:c.*277+46G>T | ENSP00000500227.1:n.*277+46G>T | |
| ENST00000672586.1:n.1737+46G>T | ||
| ENST00000672676.1:n.2002+46G>T | ||
| ENST00000673149.1:n.790+46G>T | ||
| ENST00000673350.1:n.3095+46G>T | ||
| ENST00000673518.1:c.900+46G>T | ENSP00000499889.1:n.900+46G>T | |
| ENST00000304874.13:c.978+46G>T | ENSP00000307188.9:n.978+46G>T | |
| ENST00000380839.8:c.900+46G>T | ENSP00000370219.4:n.900+46G>T | |
| ENST00000395331.3:c.918+206G>T | ENSP00000378740.3:n.918+206G>T | |
| ENST00000395332.7:c.978+46G>T | ENSP00000378741.3:n.978+46G>T | |
| ENST00000450043.2:c.291+46G>T | ENSP00000396527.2:n.291+46G>T | |
| ENST00000464970.1:n.97+46G>T | ||
| ENST00000488343.1:n.147+46G>T | ||
| ENST00000493708.5:n.459+46G>T | ||
| NM_000048.3:c.978+46G>T | NP_000039.2:n.978+46G>T | |
| NM_001024943.1:c.978+46G>T | NP_001020114.1:n.978+46G>T | |
| NM_001024944.1:c.918+206G>T | NP_001020115.1:n.918+206G>T | |
| NM_001024946.1:c.900+46G>T | NP_001020117.1:n.900+46G>T | |
| NM_000048.4:c.978+46G>T MANE Select | NP_000039.2:n.978+46G>T | |
| NM_001024943.2:c.978+46G>T | NP_001020114.1:n.978+46G>T | |
| NM_001024944.2:c.918+206G>T | NP_001020115.1:n.918+206G>T | |
| NM_001024946.2:c.900+46G>T | NP_001020117.1:n.900+46G>T |