HGVS | Genome Assembly |
---|---|
NC_000019.10:g.41348342G>C , CM000681.2:g.41348342G>C | GRCh38 |
NC_000019.9:g.41854247G>C , CM000681.1:g.41854247G>C | GRCh37 |
NC_000019.8:g.46546087G>C | NCBI36 |
NG_013364.1:g.10585C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221930.6:c.469C>G MANE Select | ENSP00000221930.4:p.Leu157Val | |
ENST00000600196.2:c.469C>G | ENSP00000504008.1:p.Leu157Val | |
ENST00000677934.1:c.469C>G | ENSP00000504769.1:p.Leu157Val | |
ENST00000221930.5:c.469C>G | ENSP00000221930.4:p.Leu157Val | |
NM_000660.5:c.469C>G | NP_000651.3:p.Leu157Val | |
XM_011527242.1:c.469C>G | XP_011525544.1:p.Leu157Val | |
NM_000660.6:c.469C>G | NP_000651.3:p.Leu157Val | |
XM_011527242.2:c.469C>G | XP_011525544.1:p.Leu157Val | |
NM_000660.7:c.469C>G MANE Select | NP_000651.3:p.Leu157Val |