HGVS | Genome Assembly |
---|---|
NC_000011.10:g.102838056G>A , CM000673.2:g.102838056G>A | GRCh38 |
NC_000011.9:g.102708787G>A , CM000673.1:g.102708787G>A | GRCh37 |
NC_000011.8:g.102213997G>A | NCBI36 |
NG_012100.1:g.10556C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299855.10:c.1229+495C>T MANE Select | ENSP00000299855.5:n.1229+495C>T | |
ENST00000299855.9:c.1229+495C>T | ENSP00000299855.5:n.1229+495C>T | |
ENST00000434103.1:c.160+495C>T | ||
NM_002422.3:c.1229+495C>T | NP_002413.1:n.1229+495C>T | |
NM_002422.4:c.1229+495C>T | NP_002413.1:n.1229+495C>T | |
NM_002422.5:c.1229+495C>T MANE Select | NP_002413.1:n.1229+495C>T |