HGVS | Genome Assembly |
---|---|
NC_000013.11:g.52397512C>A , CM000675.2:g.52397512C>A | GRCh38 |
NC_000013.10:g.52971647C>A , CM000675.1:g.52971647C>A | GRCh37 |
NC_000013.9:g.51869648C>A | NCBI36 |
NG_047168.1:g.13983G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258613.5:c.741G>T MANE Select | ENSP00000258613.4:p.Val247= | |
ENST00000648254.1:c.741G>T | ENSP00000497520.1:p.Val247= | |
ENST00000258613.4:c.741G>T | ENSP00000258613.4:p.Val247= | |
ENST00000349258.8:c.741G>T | ENSP00000340650.4:p.Val247= | |
NM_018676.3:c.741G>T | NP_061146.1:p.Val247= | |
NM_199263.2:c.741G>T | NP_954872.1:p.Val247= | |
NM_018676.4:c.741G>T MANE Select | NP_061146.1:p.Val247= | |
NM_199263.3:c.741G>T | NP_954872.1:p.Val247= |