HGVS | Genome Assembly |
---|---|
NC_000002.12:g.151286035G>T , CM000664.2:g.151286035G>T | GRCh38 |
NC_000002.11:g.152142549G>T , CM000664.1:g.152142549G>T | GRCh37 |
NC_000002.10:g.151850795G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000243346.10:c.-6-3081C>A MANE Select | ENSP00000243346.5:n.-6-3081C>A | |
ENST00000243346.9:c.-6-3081C>A | ENSP00000243346.5:n.-6-3081C>A | |
ENST00000414946.1:c.-7+2856C>A | ENSP00000387373.1:n.-7+2856C>A | |
ENST00000477072.1:n.272-3081C>A | ||
ENST00000491771.5:n.272-3081C>A | ||
NM_004688.2:c.-6-3081C>A | NP_004679.2:n.-6-3081C>A | |
XM_005246941.2:c.-7+2856C>A | XP_005246998.1:n.-7+2856C>A | |
XM_017005247.1:c.-7+2646C>A | XP_016860736.1:n.-7+2646C>A | |
NM_004688.3:c.-6-3081C>A MANE Select | NP_004679.2:n.-6-3081C>A |