HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48703657A>T , CM000681.2:g.48703657A>T | GRCh38 |
NC_000019.9:g.49206914A>T , CM000681.1:g.49206914A>T | GRCh37 |
NC_000019.8:g.53898726A>T | NCBI36 |
NG_007511.1:g.12687A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000425340.3:c.701A>T MANE Select | ENSP00000387498.2:p.Tyr234Phe | |
ENST00000522966.2:c.701A>T | ENSP00000430227.2:p.Tyr234Phe | |
ENST00000391876.5:c.701A>T | ENSP00000375748.4:p.Tyr234Phe | |
ENST00000425340.2:c.701A>T | ENSP00000387498.2:p.Tyr234Phe | |
NM_000511.5:c.701A>T | NP_000502.4:p.Tyr234Phe | |
NM_001097638.2:c.701A>T | NP_001091107.1:p.Tyr234Phe | |
NR_131188.1:n.192T>A | ||
NM_000511.6:c.701A>T MANE Select | NP_000502.4:p.Tyr234Phe | |
NM_001097638.3:c.701A>T | NP_001091107.1:p.Tyr234Phe |