HGVS | Genome Assembly |
---|---|
NC_000015.10:g.68789051T>C , CM000677.2:g.68789051T>C | GRCh38 |
NC_000015.9:g.69081390T>C , CM000677.1:g.69081390T>C | GRCh37 |
NC_000015.8:g.66868444T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267918.9:n.51-1132A>G | ||
ENST00000409628.6:c.55-1132A>G | ENSP00000386496.2:n.55-1132A>G | |
ENST00000465139.6:c.55-1132A>G MANE Select | ENSP00000417864.2:n.55-1132A>G | |
ENST00000483551.6:n.3006+192A>G | ||
ENST00000495420.5:n.201-1132A>G | ||
ENST00000495764.1:n.232-1132A>G | ||
ENST00000560303.1:c.55-1132A>G | ENSP00000453838.1:n.55-1132A>G | |
NM_006305.3:c.55-1132A>G | NP_006296.1:n.55-1132A>G | |
XM_006720707.2:c.55-1132A>G | XP_006720770.1:n.55-1132A>G | |
NM_006305.4:c.55-1132A>G MANE Select | NP_006296.1:n.55-1132A>G |