HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75005914G>A , CM000676.2:g.75005914G>A | GRCh38 |
NC_000014.8:g.75472617G>A , CM000676.1:g.75472617G>A | GRCh37 |
NC_000014.7:g.74542370G>A | NCBI36 |
NG_013333.1:g.8006G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266126.10:c.646G>A MANE Select | ENSP00000266126.5:p.Val216Ile | |
ENST00000266126.9:c.646G>A | ENSP00000266126.5:p.Val216Ile | |
ENST00000553401.5:c.644G>A | ENSP00000451681.1:n.644G>A | |
ENST00000554748.2:c.10G>A | ENSP00000452582.2:p.Val4Ile | |
ENST00000556028.5:c.615G>A | ENSP00000452311.1:p.Leu205= | |
NM_014239.3:c.646G>A | NP_055054.1:p.Val216Ile | |
NM_014239.4:c.646G>A MANE Select | NP_055054.1:p.Val216Ile |