HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98577854T>A , CM000671.2:g.98577854T>A | GRCh38 |
NC_000009.11:g.101340136T>A , CM000671.1:g.101340136T>A | GRCh37 |
NC_000009.10:g.100379957T>A | NCBI36 |
NG_016426.1:g.136344A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259455.4:c.459+81A>T MANE Select | ENSP00000259455.2:n.459+81A>T | |
ENST00000637410.1:n.237+81A>T | ||
ENST00000637717.1:c.75+81A>T | ENSP00000490789.1:n.75+81A>T | |
ENST00000259455.3:c.459+81A>T | ENSP00000259455.2:n.459+81A>T | |
ENST00000634227.1:n.233+81A>T | ||
NM_005458.7:c.459+81A>T | NP_005449.5:n.459+81A>T | |
NM_005458.8:c.459+81A>T MANE Select | NP_005449.5:n.459+81A>T |