HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2849062G>A , CM000673.2:g.2849062G>A | GRCh38 |
NC_000011.9:g.2870292G>A , CM000673.1:g.2870292G>A | GRCh37 |
NC_000011.8:g.2826868G>A | NCBI36 |
NG_008935.1:g.409072G>A , LRG_287:g.409072G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000155840.12:c.*1059G>A (KCNQ1) MANE Select | ENSP00000155840.2:n.*1059G>A | |
ENST00000155840.9:c.*1059G>A (KCNQ1) | ENSP00000155840.2:n.*1059G>A | |
NM_000218.2:c.*1059G>A , LRG_287t1:c.*1059G>A (KCNQ1) | NP_000209.2:n.*1059G>A | |
NM_181798.1:c.*1059G>A , LRG_287t2:c.*1059G>A (KCNQ1) | NP_861463.1:n.*1059G>A | |
NR_130721.1:n.778-8620C>T (KCNQ1-AS1) | ||
NM_000218.3:c.*1059G>A (KCNQ1) MANE Select | NP_000209.2:n.*1059G>A |