HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128945990G= , CM000671.2:g.128945990G= | GRCh38 |
NC_000009.11:g.131708269G= , CM000671.1:g.131708269G= | GRCh37 |
NC_000009.10:g.130748090G= | NCBI36 |
NG_017009.1:g.6744C= , LRG_744:g.6744C= | |
NG_033111.1:g.3298G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372586.4:c.1314C= MANE Select | ENSP00000361667.3:p.Leu438= | |
ENST00000372586.3:c.1314C= | ENSP00000361667.3:p.Leu438= | |
ENST00000482796.1:c.39-3199G= | ENSP00000417556.2:n.39-3199G= | |
NM_014908.3:c.1314C= , LRG_744t1:c.1314C= | NP_055723.1:p.Leu438= | |
NM_014908.4:c.1314C= MANE Select | NP_055723.1:p.Leu438= |