HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37241613G>C , CM000684.2:g.37241613G>C | GRCh38 |
NC_000022.10:g.37637653G>C , CM000684.1:g.37637653G>C | GRCh37 |
NC_000022.9:g.35967599G>C | NCBI36 |
NG_007288.1:g.7653C>G , LRG_97:g.7653C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699915.1:n.139C>G | ||
ENST00000249071.11:c.81C>G MANE Select | ENSP00000249071.6:p.Ala27= | |
ENST00000249071.10:c.81C>G | ENSP00000249071.6:p.Ala27= | |
ENST00000401529.3:c.81C>G | ENSP00000385666.3:p.Ala27= | |
ENST00000405484.5:c.60C>G | ENSP00000385590.1:p.Ala20= | |
ENST00000406508.5:c.-52C>G | ENSP00000385270.1:n.-52C>G | |
ENST00000441619.5:c.81C>G | ENSP00000403778.1:p.Ala27= | |
ENST00000469532.1:n.211C>G | ||
NM_002872.4:c.81C>G | NP_002863.1:p.Ala27= | |
XM_006724286.2:c.81C>G | XP_006724349.1:p.Ala27= | |
XM_006724286.3:c.81C>G | XP_006724349.1:p.Ala27= | |
NM_002872.5:c.81C>G MANE Select | NP_002863.1:p.Ala27= |