Linked Data
dbSNP Id:
rs181715218
gnomAD v2:
10-81185314-T-C
gnomAD v3:
10-79425558-T-C
gnomAD v4:
10-79425558-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79425558T>C , CM000672.2:g.79425558T>C | GRCh38 |
| NC_000010.10:g.81185314T>C , CM000672.1:g.81185314T>C | GRCh37 |
| NC_000010.9:g.80855320T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372336.4:c.447+7000A>G MANE Select | ENSP00000361411.3:n.447+7000A>G | |
| ENST00000372333.3:c.268+7000A>G | ENSP00000361408.3:n.268+7000A>G | |
| ENST00000372336.3:c.447+7000A>G | ENSP00000361411.3:n.447+7000A>G | |
| NM_153367.3:c.447+7000A>G | NP_699198.2:n.447+7000A>G | |
| XM_011539452.1:c.237+7000A>G | XP_011537754.1:n.237+7000A>G | |
| XM_011539452.3:c.237+7000A>G | XP_011537754.1:n.237+7000A>G | |
| NM_153367.4:c.447+7000A>G MANE Select | NP_699198.2:n.447+7000A>G |