HGVS | Genome Assembly |
---|---|
NC_000008.11:g.63072985A>T , CM000670.2:g.63072985A>T | GRCh38 |
NC_000008.10:g.63985544A>T , CM000670.1:g.63985544A>T | GRCh37 |
NC_000008.9:g.64148098A>T | NCBI36 |
NG_016123.1:g.18069T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260116.5:c.308T>A MANE Select | ENSP00000260116.4:p.Val103Asp | |
ENST00000260116.4:c.308T>A | ENSP00000260116.4:p.Val103Asp | |
ENST00000521138.1:n.232+12833T>A | ||
NM_000370.3:c.308T>A MANE Select | NP_000361.1:p.Val103Asp | |
XM_006716468.2:c.205-8669T>A | XP_006716531.1:n.205-8669T>A | |
XM_006716468.4:c.205-8669T>A | XP_006716531.1:n.205-8669T>A |