HGVS | Genome Assembly |
---|---|
NC_000016.10:g.177304G>C , CM000678.2:g.177304G>C | GRCh38 |
NC_000016.9:g.227303G>C , CM000678.1:g.227303G>C | GRCh37 |
NC_000016.8:g.167303G>C | NCBI36 |
NG_000006.1:g.38167G>C | |
NG_059186.1:g.5654G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320868.9:c.322G>C MANE Select | ENSP00000322421.5:p.Val108Leu | |
ENST00000397797.1:c.226G>C | ENSP00000380899.1:p.Val76Leu | |
ENST00000472694.1:n.458G>C | ||
NM_000558.4:c.322G>C | NP_000549.1:p.Val108Leu | |
NM_000558.5:c.322G>C MANE Select | NP_000549.1:p.Val108Leu |