HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98577846A>C , CM000671.2:g.98577846A>C | GRCh38 |
NC_000009.11:g.101340128A>C , CM000671.1:g.101340128A>C | GRCh37 |
NC_000009.10:g.100379949A>C | NCBI36 |
NG_016426.1:g.136352T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259455.4:c.459+89T>G MANE Select | ENSP00000259455.2:n.459+89T>G | |
ENST00000637410.1:n.237+89T>G | ||
ENST00000637717.1:c.75+89T>G | ENSP00000490789.1:n.75+89T>G | |
ENST00000259455.3:c.459+89T>G | ENSP00000259455.2:n.459+89T>G | |
ENST00000634227.1:n.233+89T>G | ||
NM_005458.7:c.459+89T>G | NP_005449.5:n.459+89T>G | |
NM_005458.8:c.459+89T>G MANE Select | NP_005449.5:n.459+89T>G |