Linked Data
dbSNP Id:
rs75704755
ExAC:
8:87751867 C / A
gnomAD v2:
8-87751867-C-A
gnomAD v3:
8-86739639-C-A
gnomAD v4:
8-86739639-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739639C>A , CM000670.2:g.86739639C>A | GRCh38 |
| NC_000008.10:g.87751867C>A , CM000670.1:g.87751867C>A | GRCh37 |
| NC_000008.9:g.87820983C>A | NCBI36 |
| NG_016980.1:g.9037G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.211+16G>T MANE Select | ENSP00000316605.5:n.211+16G>T | |
| ENST00000681746.1:c.211+16G>T | ENSP00000505959.1:n.211+16G>T | |
| ENST00000320005.5:c.211+16G>T | ENSP00000316605.5:n.211+16G>T | |
| ENST00000519777.1:n.193+16G>T | ||
| NM_019098.4:c.211+16G>T | NP_061971.3:n.211+16G>T | |
| NM_019098.5:c.211+16G>T MANE Select | NP_061971.3:n.211+16G>T |