HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648045T>C , CM000673.2:g.69648045T>C | GRCh38 |
NC_000011.9:g.69462813T>C , CM000673.1:g.69462813T>C | GRCh37 |
NC_000011.8:g.69171994T>C | NCBI36 |
NG_007375.1:g.11941T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227507.3:c.626T>C MANE Select | ENSP00000227507.2:p.Val209Ala | |
ENST00000227507.2:c.626T>C | ENSP00000227507.2:p.Val209Ala | |
ENST00000536559.1:c.*46T>C | ENSP00000438482.1:n.*46T>C | |
ENST00000542367.1:n.89T>C | ||
ENST00000545484.1:n.332T>C | ||
NM_053056.2:c.626T>C | NP_444284.1:p.Val209Ala | |
XM_006718653.2:c.650T>C | XP_006718716.1:p.Val217Ala | |
NM_053056.3:c.626T>C MANE Select | NP_444284.1:p.Val209Ala |