HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98577865A>T , CM000671.2:g.98577865A>T | GRCh38 |
NC_000009.11:g.101340147A>T , CM000671.1:g.101340147A>T | GRCh37 |
NC_000009.10:g.100379968A>T | NCBI36 |
NG_016426.1:g.136333T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.459+70T>A MANE Select | ENSP00000259455.2:n.459+70T>A | |
ENST00000637410.1:n.237+70T>A | ||
ENST00000637717.1:c.75+70T>A | ENSP00000490789.1:n.75+70T>A | |
ENST00000259455.3:c.459+70T>A | ENSP00000259455.2:n.459+70T>A | |
ENST00000634227.1:n.233+70T>A | ||
NM_005458.7:c.459+70T>A | NP_005449.5:n.459+70T>A | |
NM_005458.8:c.459+70T>A MANE Select | NP_005449.5:n.459+70T>A |