HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73447876G>C , CM000666.2:g.73447876G>C | GRCh38 |
NC_000004.11:g.74313593G>C , CM000666.1:g.74313593G>C | GRCh37 |
NC_000004.10:g.74532457G>C | NCBI36 |
NG_023028.1:g.16661G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395792.7:c.1058+200G>C MANE Select | ENSP00000379138.2:n.1058+200G>C | |
ENST00000226359.2:c.1058+200G>C | ENSP00000226359.2:n.1058+200G>C | |
ENST00000395792.6:c.1058+200G>C | ENSP00000379138.2:n.1058+200G>C | |
NM_001134.2:c.1058+200G>C | NP_001125.1:n.1058+200G>C | |
XM_011531704.1:c.1055+200G>C | XP_011530006.1:n.1055+200G>C | |
NM_001354717.1:c.584+200G>C | NP_001341646.1:n.584+200G>C | |
NM_001134.3:c.1058+200G>C MANE Select | NP_001125.1:n.1058+200G>C | |
NM_001354717.2:c.584+200G>C | NP_001341646.2:n.584+200G>C |