HGVS | Genome Assembly |
---|---|
NC_000003.12:g.105576553G>C , CM000665.2:g.105576553G>C | GRCh38 |
NC_000003.11:g.105295397G>C , CM000665.1:g.105295397G>C | GRCh37 |
NC_000003.10:g.106778087G>C | NCBI36 |
NG_029729.1:g.214841G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306107.9:c.*2102G>C MANE Select | ENSP00000305988.5:n.*2102G>C | |
ENST00000472644.6:c.*2102G>C | ENSP00000419236.2:n.*2102G>C | |
NM_001243280.1:c.*2102G>C | NP_001230209.1:n.*2102G>C | |
NM_001627.3:c.*2102G>C | NP_001618.2:n.*2102G>C | |
NM_001627.4:c.*2102G>C MANE Select | NP_001618.2:n.*2102G>C | |
NM_001243280.2:c.*2102G>C | NP_001230209.1:n.*2102G>C |