Linked Data
dbSNP Id:
rs765051181
ExAC:
8:63985487 G / A
gnomAD v2:
8-63985487-G-A
gnomAD v4:
8-63072928-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63072928G>A , CM000670.2:g.63072928G>A | GRCh38 |
| NC_000008.10:g.63985487G>A , CM000670.1:g.63985487G>A | GRCh37 |
| NC_000008.9:g.64148041G>A | NCBI36 |
| NG_016123.1:g.18126C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260116.5:c.358+7C>T MANE Select | ENSP00000260116.4:n.358+7C>T | |
| ENST00000260116.4:c.358+7C>T | ENSP00000260116.4:n.358+7C>T | |
| ENST00000521138.1:n.232+12890C>T | ||
| NM_000370.3:c.358+7C>T MANE Select | NP_000361.1:n.358+7C>T | |
| XM_006716468.2:c.205-8612C>T | XP_006716531.1:n.205-8612C>T | |
| XM_006716468.4:c.205-8612C>T | XP_006716531.1:n.205-8612C>T |