HGVS | Genome Assembly |
---|---|
NC_000002.12:g.71124619C>A , CM000664.2:g.71124619C>A | GRCh38 |
NC_000002.11:g.71351749C>A , CM000664.1:g.71351749C>A | GRCh37 |
NC_000002.10:g.71205257C>A | NCBI36 |
NG_008977.1:g.10646G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000244217.6:c.41-76G>T MANE Select | ENSP00000244217.5:n.41-76G>T | |
ENST00000244217.5:c.41-76G>T | ENSP00000244217.5:n.41-76G>T | |
ENST00000486135.1:c.-245-76G>T | ENSP00000441569.1:n.-245-76G>T | |
ENST00000494660.6:c.-245-76G>T | ENSP00000437361.1:n.-245-76G>T | |
NM_032601.3:c.41-76G>T | NP_115990.3:n.41-76G>T | |
XM_005264613.2:c.41-76G>T | XP_005264670.1:n.41-76G>T | |
XR_939729.1:n.110-76G>T | ||
XR_939729.2:n.110-76G>T | ||
NM_032601.4:c.41-76G>T MANE Select | NP_115990.3:n.41-76G>T |