HGVS | Genome Assembly |
---|---|
NC_000001.11:g.115744826A>T , CM000663.2:g.115744826A>T | GRCh38 |
NC_000001.10:g.116287447A>T , CM000663.1:g.116287447A>T | GRCh37 |
NC_000001.9:g.116088970A>T | NCBI36 |
NG_008802.1:g.28980T>A , LRG_404:g.28980T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000488931.2:c.43+2T>A | ENSP00000518226.1:n.43+2T>A | |
ENST00000261448.6:c.319+2T>A MANE Select | ENSP00000261448.5:n.319+2T>A | |
ENST00000261448.5:c.319+2T>A | ENSP00000261448.5:n.319+2T>A | |
NM_001232.3:c.319+2T>A , LRG_404t1:c.319+2T>A | NP_001223.2:n.319+2T>A | |
NM_001232.4:c.319+2T>A MANE Select | NP_001223.2:n.319+2T>A |