HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15889226T= , CM000681.2:g.15889226T= | GRCh38 |
NC_000019.9:g.16000036T= , CM000681.1:g.16000036T= | GRCh37 |
NC_000019.8:g.15861036T= | NCBI36 |
NG_007971.2:g.13849A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221700.11:c.918+197A= MANE Select | ENSP00000221700.3:n.918+197A= | |
ENST00000011989.11:c.918+197A= | ENSP00000011989.8:n.918+197A= | |
ENST00000221700.10:c.918+197A= | ENSP00000221700.3:n.918+197A= | |
ENST00000392846.7:n.861+197A= | ||
ENST00000587671.2:c.*503+197A= | ENSP00000467443.2:n.*503+197A= | |
NM_001082.4:c.918+197A= | NP_001073.3:n.918+197A= | |
NM_001082.5:c.918+197A= MANE Select | NP_001073.3:n.918+197A= |