HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19116936G= , CM000669.2:g.19116936G= | GRCh38 |
NC_000007.13:g.19156559G= , CM000669.1:g.19156559G= | GRCh37 |
NC_000007.12:g.19123084G= | NCBI36 |
NG_008114.1:g.5737C= | |
NG_008114.2:g.5737C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.386C= MANE Select | ENSP00000242261.5:p.Ala129= | |
ENST00000242261.5:c.386C= | ENSP00000242261.5:p.Ala129= | |
ENST00000354571.5:c.183C= | ||
NM_000474.3:c.386C= | NP_000465.1:p.Ala129= | |
XM_011515496.1:c.386C= | XP_011513798.1:p.Ala129= | |
NR_149001.1:n.737C= | ||
NM_000474.4:c.386C= MANE Select | NP_000465.1:p.Ala129= | |
NR_149001.2:n.701C= |