HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41584023C>T , CM000679.2:g.41584023C>T | GRCh38 |
NC_000017.10:g.39740275C>T , CM000679.1:g.39740275C>T | GRCh37 |
NC_000017.9:g.36993801C>T | NCBI36 |
NG_008624.1:g.7873G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.766-102G>A MANE Select | ENSP00000167586.6:n.766-102G>A | |
ENST00000167586.6:c.766-102G>A | ENSP00000167586.6:n.766-102G>A | |
ENST00000476662.1:n.216-102G>A | ||
NM_000526.4:c.766-102G>A | NP_000517.2:n.766-102G>A | |
NM_000526.5:c.766-102G>A MANE Select | NP_000517.3:n.766-102G>A |