HGVS | Genome Assembly |
---|---|
NC_000005.10:g.74689415C>T , CM000667.2:g.74689415C>T | GRCh38 |
NC_000005.9:g.73985240C>T , CM000667.1:g.73985240C>T | GRCh37 |
NC_000005.8:g.74020996C>T | NCBI36 |
NG_009770.1:g.9272C>T | |
NG_009770.2:g.54393C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261416.12:c.387C>T MANE Select | ENSP00000261416.7:p.Val129= | |
ENST00000261416.11:c.387C>T | ENSP00000261416.7:p.Val129= | |
ENST00000511181.5:c.-289C>T | ENSP00000426285.1:n.-289C>T | |
ENST00000513079.5:n.452C>T | ||
ENST00000515528.1:n.442C>T | ||
NM_000521.3:c.387C>T | NP_000512.1:p.Val129= | |
NM_001292004.1:c.-289C>T | NP_001278933.1:n.-289C>T | |
NM_000521.4:c.387C>T MANE Select | NP_000512.2:p.Val129= | |
NM_001292004.2:c.-289C>T | NP_001278933.1:n.-289C>T |