HGVS | Genome Assembly |
---|---|
NC_000019.10:g.1401307G>A , CM000681.2:g.1401307G>A | GRCh38 |
NC_000019.9:g.1401306G>A , CM000681.1:g.1401306G>A | GRCh37 |
NC_000019.8:g.1352306G>A | NCBI36 |
NG_009785.1:g.5247C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252288.8:c.170C>T MANE Select | ENSP00000252288.1:p.Ala57Val | |
ENST00000447102.8:c.170C>T | ENSP00000403536.2:p.Ala57Val | |
ENST00000640762.1:c.112+58C>T | ENSP00000492031.1:n.112+58C>T | |
ENST00000252288.6:c.170C>T | ENSP00000252288.1:p.Ala57Val | |
ENST00000447102.7:c.170C>T | ENSP00000403536.2:p.Ala57Val | |
NM_000156.5:c.170C>T | NP_000147.1:p.Ala57Val | |
NM_138924.2:c.170C>T | NP_620279.1:p.Ala57Val | |
NM_000156.6:c.170C>T MANE Select | NP_000147.1:p.Ala57Val | |
NM_138924.3:c.170C>T | NP_620279.1:p.Ala57Val |