HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133352227C>A , CM000671.2:g.133352227C>A | GRCh38 |
NC_000009.10:g.135208903C>A | NCBI36 |
NG_008477.1:g.9280G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.752-85G>T MANE Select | ENSP00000361042.3:n.752-85G>T | |
ENST00000371974.7:c.752-85G>T | ENSP00000361042.3:n.752-85G>T | |
ENST00000437995.1:n.662-85G>T | ||
ENST00000495952.5:n.742-85G>T | ||
ENST00000615505.4:c.425-85G>T | ENSP00000482067.1:n.425-85G>T | |
NM_001280787.1:c.425-85G>T | NP_001267716.1:n.425-85G>T | |
NM_003172.3:c.752-85G>T | NP_003163.1:n.752-85G>T | |
XM_011518942.1:c.425-85G>T | XP_011517244.1:n.425-85G>T | |
NM_003172.4:c.752-85G>T MANE Select | NP_003163.1:n.752-85G>T |