HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74529232T= , CM000685.2:g.74529232T= | GRCh38 |
NC_000023.10:g.73749067T= , CM000685.1:g.73749067T= | GRCh37 |
NC_000023.9:g.73665792T= | NCBI36 |
NG_011641.1:g.112983T= | |
NG_011641.2:g.112983T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000587091.6:c.1190T= MANE Select | ENSP00000465734.1:p.Leu397= | |
ENST00000636771.1:c.1099T= | ||
ENST00000587091.5:c.1190T= | ENSP00000465734.1:p.Leu397= | |
ENST00000590447.1:c.611-2101T= | ||
NM_006517.4:c.1190T= | NP_006508.2:p.Leu397= | |
XM_005262294.1:c.1171-2101T= | XP_005262351.1:n.1171-2101T= | |
NM_006517.5:c.1190T= MANE Select | NP_006508.2:p.Leu397= |