HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52492665G>T , CM000674.2:g.52492665G>T | GRCh38 |
NC_000012.11:g.52886449G>T , CM000674.1:g.52886449G>T | GRCh37 |
NC_000012.10:g.51172716G>T | NCBI36 |
NG_008298.1:g.5733C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330722.7:c.524C>A MANE Select | ENSP00000369317.3:p.Ala175Asp | |
ENST00000330722.6:c.524C>A | ENSP00000369317.3:p.Ala175Asp | |
ENST00000549898.5:n.45C>A | ||
NM_005554.3:c.524C>A | NP_005545.1:p.Ala175Asp | |
NM_005554.4:c.524C>A MANE Select | NP_005545.1:p.Ala175Asp |