HGVS | Genome Assembly |
---|---|
NC_000011.10:g.59836421A>G , CM000673.2:g.59836421A>G | GRCh38 |
NC_000011.9:g.59603894A>G , CM000673.1:g.59603894A>G | GRCh37 |
NC_000011.8:g.59360470A>G | NCBI36 |
NG_008120.1:g.14081T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000257248.3:c.872-412T>C MANE Select | ENSP00000257248.2:n.872-412T>C | |
ENST00000257248.2:c.872-412T>C | ENSP00000257248.2:n.872-412T>C | |
ENST00000525058.5:c.*839-412T>C | ENSP00000433196.1:n.*839-412T>C | |
ENST00000533847.1:n.524-412T>C | ||
NM_005142.2:c.872-412T>C | NP_005133.2:n.872-412T>C | |
XM_011544939.1:c.830-412T>C | XP_011543241.1:n.830-412T>C | |
XM_011544939.3:c.830-412T>C | XP_011543241.1:n.830-412T>C | |
NM_005142.3:c.872-412T>C MANE Select | NP_005133.2:n.872-412T>C |