HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56983350T>A , CM000678.2:g.56983350T>A | GRCh38 |
NC_000016.9:g.57017262T>A , CM000678.1:g.57017262T>A | GRCh37 |
NC_000016.8:g.55574763T>A | NCBI36 |
NG_008952.1:g.26428T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000200676.8:c.1346T>A MANE Select | ENSP00000200676.3:p.Leu449His | |
ENST00000650358.1:n.1744T>A | ||
ENST00000200676.7:c.1346T>A | ENSP00000200676.3:p.Leu449His | |
ENST00000379780.6:c.1166T>A | ENSP00000369106.2:p.Leu389His | |
ENST00000566128.1:c.1151T>A | ENSP00000456276.1:p.Leu384His | |
NM_000078.2:c.1346T>A | NP_000069.2:p.Leu449His | |
NM_001286085.1:c.1166T>A | NP_001273014.1:p.Leu389His | |
NM_000078.3:c.1346T>A MANE Select | NP_000069.2:p.Leu449His | |
NM_001286085.2:c.1166T>A | NP_001273014.1:p.Leu389His |