Linked Data
dbSNP Id:
rs10484854
gnomAD v2:
6-38664594-C-T
gnomAD v3:
6-38696818-C-T
gnomAD v4:
6-38696818-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38696818C>T , CM000668.2:g.38696818C>T | GRCh38 |
| NC_000006.11:g.38664594C>T , CM000668.1:g.38664594C>T | GRCh37 |
| NC_000006.10:g.38772572C>T | NCBI36 |
| NG_012074.1:g.11359G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373365.5:c.84+6153G>A MANE Select | ENSP00000362463.3:n.84+6153G>A | |
| ENST00000373365.4:c.84+6153G>A | ENSP00000362463.3:n.84+6153G>A | |
| NM_006708.2:c.84+6153G>A | NP_006699.2:n.84+6153G>A | |
| NM_006708.3:c.84+6153G>A MANE Select | NP_006699.2:n.84+6153G>A |