HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32474950C>A , CM000684.2:g.32474950C>A | GRCh38 |
NC_000022.10:g.32870937C>A , CM000684.1:g.32870937C>A | GRCh37 |
NC_000022.9:g.31200937C>A | NCBI36 |
NG_016001.1:g.5231C>A | |
NG_016001.2:g.5231C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266087.12:c.-53C>A MANE Select | ENSP00000266087.7:n.-53C>A | |
ENST00000266087.11:c.-53C>A | ENSP00000266087.7:n.-53C>A | |
ENST00000420700.5:c.-53C>A | ENSP00000406155.1:n.-53C>A | |
ENST00000425028.5:c.-53C>A | ENSP00000395823.1:n.-53C>A | |
NM_012179.3:c.-53C>A | NP_036311.3:n.-53C>A | |
XM_011530106.1:c.-226C>A | XP_011528408.1:n.-226C>A | |
XM_024452207.1:c.-243C>A | XP_024307975.1:n.-243C>A | |
NM_012179.4:c.-53C>A MANE Select | NP_036311.3:n.-53C>A |