HGVS | Genome Assembly |
---|---|
NC_000010.11:g.16950008G>C , CM000672.2:g.16950008G>C | GRCh38 |
NC_000010.10:g.16992007G>C , CM000672.1:g.16992007G>C | GRCh37 |
NC_000010.9:g.17032013G>C | NCBI36 |
NG_008967.1:g.184810C>G , LRG_540:g.184810C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377833.10:c.5073C>G MANE Select | ENSP00000367064.4:p.Pro1691= | |
ENST00000377833.8:c.5073C>G | ENSP00000367064.4:p.Pro1691= | |
NM_001081.3:c.5073C>G , LRG_540t1:c.5073C>G | NP_001072.2:p.Pro1691= | |
XM_011519708.1:c.5073C>G | XP_011518010.1:p.Pro1691= | |
XM_011519709.1:c.1059C>G | XP_011518011.1:p.Pro353= | |
XM_011519710.1:c.1035C>G | XP_011518012.1:p.Pro345= | |
XM_011519711.1:c.915C>G | XP_011518013.1:p.Pro305= | |
XM_011519708.2:c.5073C>G | XP_011518010.1:p.Pro1691= | |
XM_011519709.2:c.1059C>G | XP_011518011.1:p.Pro353= | |
XM_011519710.2:c.1035C>G | XP_011518012.1:p.Pro345= | |
XM_011519711.3:c.915C>G | XP_011518013.1:p.Pro305= | |
NM_001081.4:c.5073C>G MANE Select | NP_001072.2:p.Pro1691= |