HGVS | Genome Assembly |
---|---|
NC_000009.12:g.127854338G>T , CM000671.2:g.127854338G>T | GRCh38 |
NC_000009.11:g.130616617G>T , CM000671.1:g.130616617G>T | GRCh37 |
NC_000009.10:g.129656438G>T | NCBI36 |
NG_009551.1:g.5431C>A , LRG_589:g.5431C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373203.9:c.18C>A MANE Select | ENSP00000362299.4:p.Leu6= | |
ENST00000344849.4:c.18C>A | ENSP00000341917.3:p.Leu6= | |
ENST00000373203.8:c.18C>A | ENSP00000362299.4:p.Leu6= | |
NM_000118.3:c.18C>A , LRG_589t1:c.18C>A | NP_000109.1:p.Leu6= | |
NM_001114753.2:c.18C>A , LRG_589t2:c.18C>A | NP_001108225.1:p.Leu6= | |
NM_001114753.3:c.18C>A MANE Select | NP_001108225.1:p.Leu6= |