HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32220557G>T , CM000668.2:g.32220557G>T | GRCh38 |
NC_000006.11:g.32188334G>T , CM000668.1:g.32188334G>T | GRCh37 |
NC_000006.10:g.32296312G>T | NCBI36 |
NG_028190.1:g.8511C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375023.3:c.1007C>A MANE Select | ENSP00000364163.3:p.Ala336Asp | |
ENST00000473562.1:n.1136C>A | ||
NM_004557.3:c.1007C>A | NP_004548.3:p.Ala336Asp | |
NR_134949.1:n.1146C>A | ||
NR_134950.1:n.1146C>A | ||
NM_004557.4:c.1007C>A MANE Select | NP_004548.3:p.Ala336Asp | |
NR_134949.2:n.1146C>A | ||
NR_134950.2:n.1146C>A |