HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20242433A>T , CM000684.2:g.20242433A>T | GRCh38 |
NC_000022.10:g.20229956A>T , CM000684.1:g.20229956A>T | GRCh37 |
NC_000022.9:g.18609956A>T | NCBI36 |
NG_012176.1:g.30861T>A | |
NG_012176.2:g.30861T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000043402.8:c.700T>A MANE Select | ENSP00000043402.7:p.Phe234Ile | |
ENST00000043402.7:c.700T>A | ENSP00000043402.7:p.Phe234Ile | |
ENST00000416372.5:c.759T>A | ||
ENST00000425986.1:c.957T>A | ||
NM_023004.5:c.700T>A | NP_075380.1:p.Phe234Ile | |
NM_023004.6:c.700T>A MANE Select | NP_075380.1:p.Phe234Ile |