HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20242561G>A , CM000684.2:g.20242561G>A | GRCh38 |
NC_000022.10:g.20230084G>A , CM000684.1:g.20230084G>A | GRCh37 |
NC_000022.9:g.18610084G>A | NCBI36 |
NG_012176.1:g.30733C>T | |
NG_012176.2:g.30733C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000043402.8:c.572C>T MANE Select | ENSP00000043402.7:p.Ser191Phe | |
ENST00000043402.7:c.572C>T | ENSP00000043402.7:p.Ser191Phe | |
ENST00000416372.5:c.631C>T | ||
ENST00000425986.1:c.829C>T | ||
NM_023004.5:c.572C>T | NP_075380.1:p.Ser191Phe | |
NM_023004.6:c.572C>T MANE Select | NP_075380.1:p.Ser191Phe |