HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38367390A>C , CM000685.2:g.38367390A>C | GRCh38 |
NC_000023.10:g.38226643A>C , CM000685.1:g.38226643A>C | GRCh37 |
NC_000023.9:g.38111587A>C | NCBI36 |
NG_008471.1:g.19908A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.177A>C MANE Select | ENSP00000039007.4:p.Leu59= | |
ENST00000643344.1:c.177A>C | ENSP00000496606.1:p.Leu59= | |
ENST00000039007.4:c.177A>C | ENSP00000039007.4:p.Leu59= | |
ENST00000465127.1:c.172-298731A>C | ENSP00000417050.1:n.172-298731A>C | |
ENST00000488812.1:n.269A>C | ||
NM_000531.5:c.177A>C | NP_000522.3:p.Leu59= | |
XM_017029556.1:c.177A>C | XP_016885045.1:p.Leu59= | |
NM_000531.6:c.177A>C MANE Select | NP_000522.3:p.Leu59= |