HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94849939T>G , CM000672.2:g.94849939T>G | GRCh38 |
NC_000010.10:g.96609696T>G , CM000672.1:g.96609696T>G | GRCh37 |
NC_000010.9:g.96599686T>G | NCBI36 |
NG_008384.2:g.92234T>G | |
NG_008384.3:g.92259T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.1172T>G MANE Select | ENSP00000360372.3:p.Leu391Arg | |
ENST00000645461.1:n.2083T>G | ||
ENST00000371321.7:c.1172T>G | ENSP00000360372.3:p.Leu391Arg | |
ENST00000464755.1:c.1935T>G | ENSP00000483243.1:n.1935T>G | |
NM_000769.2:c.1172T>G | NP_000760.1:p.Leu391Arg | |
NM_000769.4:c.1172T>G MANE Select | NP_000760.1:p.Leu391Arg |