HGVS | Genome Assembly |
---|---|
NC_000006.12:g.408833G>C , CM000668.2:g.408833G>C | GRCh38 |
NC_000006.11:g.408833G>C , CM000668.1:g.408833G>C | GRCh37 |
NC_000006.10:g.353833G>C | NCBI36 |
NG_027728.1:g.22095G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380956.9:c.*1235G>C MANE Select | ENSP00000370343.4:n.*1235G>C | |
ENST00000380956.8:c.*1235G>C | ENSP00000370343.4:n.*1235G>C | |
NM_001195286.1:c.*1235G>C | NP_001182215.1:n.*1235G>C | |
NM_002460.3:c.*1235G>C | NP_002451.2:n.*1235G>C | |
NR_046000.2:n.2848G>C | ||
XM_006715090.1:c.*1235G>C | XP_006715153.1:n.*1235G>C | |
XM_006715090.2:c.*1235G>C | XP_006715153.1:n.*1235G>C | |
NM_002460.4:c.*1235G>C MANE Select | NP_002451.2:n.*1235G>C | |
NM_001195286.2:c.*1235G>C | NP_001182215.1:n.*1235G>C | |
NR_046000.3:n.2835G>C |