HGVS | Genome Assembly |
---|---|
NC_000003.12:g.33114553G>C , CM000665.2:g.33114553G>C | GRCh38 |
NC_000003.11:g.33156045G>C , CM000665.1:g.33156045G>C | GRCh37 |
NC_000003.10:g.33131049G>C | NCBI36 |
NG_008122.1:g.5596G>C , LRG_4:g.5596G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320954.11:c.471+5G>C MANE Select | ENSP00000323696.5:n.471+5G>C | |
ENST00000320954.10:c.471+5G>C | ENSP00000323696.5:n.471+5G>C | |
ENST00000449224.1:c.471+5G>C | ENSP00000409997.1:n.471+5G>C | |
NM_006371.4:c.471+5G>C , LRG_4t1:c.471+5G>C | NP_006362.1:n.471+5G>C | |
NM_006371.5:c.471+5G>C MANE Select | NP_006362.1:n.471+5G>C | |
NM_001393363.1:c.471+5G>C | NP_001380292.1:n.471+5G>C | |
NM_001393364.1:c.471+5G>C | NP_001380293.1:n.471+5G>C | |
NM_001393365.1:c.471+5G>C | NP_001380294.1:n.471+5G>C |