HGVS | Genome Assembly |
---|---|
NC_000008.11:g.18400316A>G , CM000670.2:g.18400316A>G | GRCh38 |
NC_000008.10:g.18257826A>G , CM000670.1:g.18257826A>G | GRCh37 |
NC_000008.9:g.18302106A>G | NCBI36 |
NG_012246.1:g.14072A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286479.4:c.313A>G MANE Select | ENSP00000286479.3:p.Met105Val | |
ENST00000286479.3:c.313A>G | ENSP00000286479.3:p.Met105Val | |
ENST00000520116.1:c.-57-21A>G | ENSP00000428416.1:n.-57-21A>G | |
NM_000015.2:c.313A>G | NP_000006.2:p.Met105Val | |
XM_011544358.1:c.313A>G | XP_011542660.1:p.Met105Val | |
XM_017012938.1:c.313A>G | XP_016868427.1:p.Met105Val | |
NM_000015.3:c.313A>G MANE Select | NP_000006.2:p.Met105Val |