HGVS | Genome Assembly |
---|---|
NC_000004.12:g.88008322C>G , CM000666.2:g.88008322C>G | GRCh38 |
NC_000004.11:g.88929474C>G , CM000666.1:g.88929474C>G | GRCh37 |
NC_000004.10:g.89148498C>G | NCBI36 |
NG_008604.1:g.5655C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237596.7:c.589C>G MANE Select | ENSP00000237596.2:p.Leu197Val | |
ENST00000237596.6:c.589C>G | ENSP00000237596.2:p.Leu197Val | |
ENST00000506727.1:n.91C>G | ||
NM_000297.3:c.589C>G | NP_000288.1:p.Leu197Val | |
XM_011532028.1:c.589C>G | XP_011530330.1:p.Leu197Val | |
XR_244632.2:n.684C>G | ||
NR_156488.1:n.676C>G | ||
XM_011532028.2:c.589C>G | XP_011530330.1:p.Leu197Val | |
NM_000297.4:c.589C>G MANE Select | NP_000288.1:p.Leu197Val | |
NR_156488.2:n.688C>G |