HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52492665G>A , CM000674.2:g.52492665G>A | GRCh38 |
NC_000012.11:g.52886449G>A , CM000674.1:g.52886449G>A | GRCh37 |
NC_000012.10:g.51172716G>A | NCBI36 |
NG_008298.1:g.5733C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330722.7:c.524C>T MANE Select | ENSP00000369317.3:p.Ala175Val | |
ENST00000330722.6:c.524C>T | ENSP00000369317.3:p.Ala175Val | |
ENST00000549898.5:n.45C>T | ||
NM_005554.3:c.524C>T | NP_005545.1:p.Ala175Val | |
NM_005554.4:c.524C>T MANE Select | NP_005545.1:p.Ala175Val |