HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49637053G>T , CM000681.2:g.49637053G>T | GRCh38 |
NC_000019.9:g.50140310G>T , CM000681.1:g.50140310G>T | GRCh37 |
NC_000019.8:g.54832122G>T | NCBI36 |
NG_042222.1:g.8091C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000246792.4:c.231C>A MANE Select | ENSP00000246792.2:p.Ala77= | |
ENST00000246792.3:c.231C>A | ENSP00000246792.2:p.Ala77= | |
ENST00000601532.1:n.255C>A | ||
NM_006270.3:c.231C>A | NP_006261.1:p.Ala77= | |
NM_006270.4:c.231C>A | NP_006261.1:p.Ala77= | |
NM_006270.5:c.231C>A MANE Select | NP_006261.1:p.Ala77= |