HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56983409G>C , CM000678.2:g.56983409G>C | GRCh38 |
NC_000016.9:g.57017321G>C , CM000678.1:g.57017321G>C | GRCh37 |
NC_000016.8:g.55574822G>C | NCBI36 |
NG_008952.1:g.26487G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000200676.8:c.1405G>C MANE Select | ENSP00000200676.3:p.Asp469His | |
ENST00000200676.7:c.1405G>C | ENSP00000200676.3:p.Asp469His | |
ENST00000379780.6:c.1225G>C | ENSP00000369106.2:p.Asp409His | |
ENST00000566128.1:c.1210G>C | ENSP00000456276.1:p.Asp404His | |
NM_000078.2:c.1405G>C | NP_000069.2:p.Asp469His | |
NM_001286085.1:c.1225G>C | NP_001273014.1:p.Asp409His | |
NM_000078.3:c.1405G>C MANE Select | NP_000069.2:p.Asp469His | |
NM_001286085.2:c.1225G>C | NP_001273014.1:p.Asp409His |