HGVS | Genome Assembly |
---|---|
NC_000023.11:g.44540940G>A , CM000685.2:g.44540940G>A | GRCh38 |
NC_000023.10:g.44400186G>A , CM000685.1:g.44400186G>A | GRCh37 |
NC_000023.9:g.44285130G>A | NCBI36 |
NG_021288.1:g.7036C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378045.5:c.185+1005C>T MANE Select | ENSP00000367284.4:n.185+1005C>T | |
ENST00000378045.4:c.185+1005C>T | ENSP00000367284.4:n.185+1005C>T | |
ENST00000483115.1:n.360+1005C>T | ||
NM_173794.3:c.185+1005C>T | NP_776155.1:n.185+1005C>T | |
NM_173794.4:c.185+1005C>T MANE Select | NP_776155.1:n.185+1005C>T |