HGVS | Genome Assembly |
---|---|
NC_000014.9:g.60509897C>G , CM000676.2:g.60509897C>G | GRCh38 |
NC_000014.8:g.60976615C>G , CM000676.1:g.60976615C>G | GRCh37 |
NC_000014.7:g.60046368C>G | NCBI36 |
NG_008203.1:g.5678C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327720.6:c.499C>G (SIX6) MANE Select | ENSP00000328596.5:p.Leu167Val | |
ENST00000327720.5:c.499C>G (SIX6) | ENSP00000328596.5:p.Leu167Val | |
ENST00000556799.1:c.-144+5498G>C (C14orf39) | ENSP00000451441.1:n.-144+5498G>C | |
NM_007374.2:c.499C>G (SIX6) | NP_031400.2:p.Leu167Val | |
NM_007374.3:c.499C>G (SIX6) MANE Select | NP_031400.2:p.Leu167Val |