HGVS | Genome Assembly |
---|---|
NC_000001.11:g.6112265G>A , CM000663.2:g.6112265G>A | GRCh38 |
NC_000001.10:g.6172325G>A , CM000663.1:g.6172325G>A | GRCh37 |
NC_000001.9:g.6094912G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262450.8:c.5015C>T MANE Select | ENSP00000262450.3:p.Ala1672Val | |
ENST00000262450.7:c.5015C>T | ENSP00000262450.3:p.Ala1672Val | |
ENST00000377999.5:c.1918C>T | ENSP00000367238.2:n.1918C>T | |
ENST00000462991.5:c.3268C>T | ||
ENST00000496404.1:c.3733C>T | ENSP00000433676.1:n.3733C>T | |
NM_015557.2:c.5015C>T | NP_056372.1:p.Ala1672Val | |
NM_015557.3:c.5015C>T MANE Select | NP_056372.1:p.Ala1672Val |