HGVS | Genome Assembly |
---|---|
NC_000011.10:g.44265120G>C , CM000673.2:g.44265120G>C | GRCh38 |
NC_000011.9:g.44286670G>C , CM000673.1:g.44286670G>C | GRCh37 |
NC_000011.8:g.44243246G>C | NCBI36 |
NG_015809.1:g.50047C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000652299.1:c.970C>G MANE Select | ENSP00000498217.1:p.Pro324Ala | |
ENST00000329255.3:c.970C>G | ENSP00000332744.3:p.Pro324Ala | |
NM_021926.3:c.970C>G | NP_068745.2:p.Pro324Ala | |
XM_011520265.1:c.448C>G | XP_011518567.1:p.Pro150Ala | |
XM_011520266.1:c.448C>G | XP_011518568.1:p.Pro150Ala | |
NM_021926.4:c.970C>G MANE Select | NP_068745.2:p.Pro324Ala |