HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38367404A>T , CM000685.2:g.38367404A>T | GRCh38 |
NC_000023.10:g.38226657A>T , CM000685.1:g.38226657A>T | GRCh37 |
NC_000023.9:g.38111601A>T | NCBI36 |
NG_008471.1:g.19922A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.191A>T MANE Select | ENSP00000039007.4:p.Lys64Ile | |
ENST00000643344.1:c.191A>T | ENSP00000496606.1:p.Lys64Ile | |
ENST00000039007.4:c.191A>T | ENSP00000039007.4:p.Lys64Ile | |
ENST00000465127.1:c.172-298717A>T | ENSP00000417050.1:n.172-298717A>T | |
ENST00000488812.1:n.283A>T | ||
NM_000531.5:c.191A>T | NP_000522.3:p.Lys64Ile | |
XM_017029556.1:c.191A>T | XP_016885045.1:p.Lys64Ile | |
NM_000531.6:c.191A>T MANE Select | NP_000522.3:p.Lys64Ile |