HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94762793C>G , CM000672.2:g.94762793C>G | GRCh38 |
NC_000010.10:g.96522550C>G , CM000672.1:g.96522550C>G | GRCh37 |
NC_000010.9:g.96512540C>G | NCBI36 |
NG_008384.2:g.5088C>G | |
NG_008384.3:g.5113C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.88C>G MANE Select | ENSP00000360372.3:p.Pro30Ala | |
ENST00000371321.7:c.88C>G | ENSP00000360372.3:p.Pro30Ala | |
ENST00000464755.1:c.932-12265C>G | ENSP00000483243.1:n.932-12265C>G | |
ENST00000480405.2:c.88C>G | ENSP00000483847.1:p.Pro30Ala | |
NM_000769.2:c.88C>G | NP_000760.1:p.Pro30Ala | |
NM_000769.4:c.88C>G MANE Select | NP_000760.1:p.Pro30Ala |