HGVS | Genome Assembly |
---|---|
NC_000013.11:g.30738493G>C , CM000675.2:g.30738493G>C | GRCh38 |
NC_000013.10:g.31312630G>C , CM000675.1:g.31312630G>C | GRCh37 |
NC_000013.9:g.30210630G>C | NCBI36 |
NG_011963.2:g.30016G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380490.5:c.70+2818G>C MANE Select | ENSP00000369858.3:n.70+2818G>C | |
ENST00000380490.4:c.70+2818G>C | ENSP00000369858.3:n.70+2818G>C | |
ENST00000617770.4:c.241+2818G>C | ENSP00000479870.1:n.241+2818G>C | |
NM_001204406.1:c.241+2818G>C | NP_001191335.1:n.241+2818G>C | |
NM_001629.3:c.70+2818G>C | NP_001620.2:n.70+2818G>C | |
XM_011535024.1:c.70+2818G>C | XP_011533326.1:n.70+2818G>C | |
NM_001204406.2:c.241+2818G>C | NP_001191335.1:n.241+2818G>C | |
NM_001629.4:c.70+2818G>C MANE Select | NP_001620.2:n.70+2818G>C |