Linked Data
dbSNP Id:
rs2068361
gnomAD v2:
6-7736743-C-T
gnomAD v3:
6-7736510-C-T
gnomAD v4:
6-7736510-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7736510C>T , CM000668.2:g.7736510C>T | GRCh38 |
| NC_000006.11:g.7736743C>T , CM000668.1:g.7736743C>T | GRCh37 |
| NC_000006.10:g.7681742C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283147.7:c.664+8891C>T MANE Select | ENSP00000283147.6:n.664+8891C>T | |
| ENST00000283147.6:c.664+8891C>T | ENSP00000283147.6:n.664+8891C>T | |
| NM_001718.4:c.664+8891C>T | NP_001709.1:n.664+8891C>T | |
| NM_001718.5:c.664+8891C>T | NP_001709.1:n.664+8891C>T | |
| NM_001718.6:c.664+8891C>T MANE Select | NP_001709.1:n.664+8891C>T |