HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80276287A>G , CM000672.2:g.80276287A>G | GRCh38 |
NC_000010.10:g.82036043A>G , CM000672.1:g.82036043A>G | GRCh37 |
NC_000010.9:g.82026023A>G | NCBI36 |
NG_008083.1:g.18392T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372213.8:c.768+89T>C MANE Select | ENSP00000361287.3:n.768+89T>C | |
ENST00000372213.7:c.768+89T>C | ENSP00000361287.3:n.768+89T>C | |
NM_000429.2:c.768+89T>C | NP_000420.1:n.768+89T>C | |
XM_005269842.3:c.768+89T>C | XP_005269899.1:n.768+89T>C | |
XM_005269843.3:c.645+89T>C | XP_005269900.1:n.645+89T>C | |
NM_000429.3:c.768+89T>C MANE Select | NP_000420.1:n.768+89T>C |