HGVS | Genome Assembly |
---|---|
NC_000006.12:g.39048997C>T , CM000668.2:g.39048997C>T | GRCh38 |
NC_000006.11:g.39016773C>T , CM000668.1:g.39016773C>T | GRCh37 |
NC_000006.10:g.39124751C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373256.5:c.78+79C>T MANE Select | ENSP00000362353.4:n.78+79C>T | |
ENST00000373256.4:c.78+79C>T | ENSP00000362353.4:n.78+79C>T | |
NM_002062.3:c.78+79C>T | NP_002053.3:n.78+79C>T | |
XR_926153.1:n.138+79C>T | ||
XR_926154.1:n.138+79C>T | ||
XR_926155.1:n.138+79C>T | ||
NM_002062.4:c.78+79C>T | NP_002053.3:n.78+79C>T | |
NR_136562.1:n.138+79C>T | ||
NR_136563.1:n.138+79C>T | ||
NM_002062.5:c.78+79C>T MANE Select | NP_002053.3:n.78+79C>T | |
NR_136562.2:n.138+79C>T | ||
NR_136563.2:n.138+79C>T |