HGVS | Genome Assembly |
---|---|
NC_000004.12:g.46965556G>A , CM000666.2:g.46965556G>A | GRCh38 |
NC_000004.11:g.46967573G>A , CM000666.1:g.46967573G>A | GRCh37 |
NC_000004.10:g.46662330G>A | NCBI36 |
NG_011809.1:g.33008C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264318.4:c.875-327C>T MANE Select | ENSP00000264318.3:n.875-327C>T | |
ENST00000264318.3:c.875-327C>T | ENSP00000264318.3:n.875-327C>T | |
ENST00000508560.5:c.*696-327C>T | ENSP00000425445.1:n.*696-327C>T | |
ENST00000511523.5:c.*543-327C>T | ENSP00000422152.1:n.*543-327C>T | |
NM_000809.3:c.875-327C>T | NP_000800.2:n.875-327C>T | |
NM_001204266.1:c.818-327C>T | NP_001191195.1:n.818-327C>T | |
NM_001204267.1:c.665-327C>T | NP_001191196.1:n.665-327C>T | |
XM_011513677.1:c.722-327C>T | XP_011511979.1:n.722-327C>T | |
NM_000809.4:c.875-327C>T MANE Select | NP_000800.2:n.875-327C>T | |
NM_001204266.2:c.818-327C>T | NP_001191195.1:n.818-327C>T | |
NM_001204267.2:c.665-327C>T | NP_001191196.1:n.665-327C>T |