HGVS | Genome Assembly |
---|---|
NC_000014.9:g.60509795C>G , CM000676.2:g.60509795C>G | GRCh38 |
NC_000014.8:g.60976513C>G , CM000676.1:g.60976513C>G | GRCh37 |
NC_000014.7:g.60046266C>G | NCBI36 |
NG_008203.1:g.5576C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000327720.6:c.397C>G (SIX6) MANE Select | ENSP00000328596.5:p.His133Asp | |
ENST00000327720.5:c.397C>G (SIX6) | ENSP00000328596.5:p.His133Asp | |
ENST00000556799.1:c.-144+5600G>C (C14orf39) | ENSP00000451441.1:n.-144+5600G>C | |
NM_007374.2:c.397C>G (SIX6) | NP_031400.2:p.His133Asp | |
NM_007374.3:c.397C>G (SIX6) MANE Select | NP_031400.2:p.His133Asp |