HGVS | Genome Assembly |
---|---|
NC_000002.12:g.71124238T>C , CM000664.2:g.71124238T>C | GRCh38 |
NC_000002.11:g.71351368T>C , CM000664.1:g.71351368T>C | GRCh37 |
NC_000002.10:g.71204876T>C | NCBI36 |
NG_008977.1:g.11027A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000244217.6:c.346A>G MANE Select | ENSP00000244217.5:p.Lys116Glu | |
ENST00000244217.5:c.346A>G | ENSP00000244217.5:p.Lys116Glu | |
ENST00000413592.5:c.84+130A>G | ENSP00000391140.1:n.84+130A>G | |
ENST00000486135.1:c.61A>G | ENSP00000441569.1:p.Lys21Glu | |
ENST00000494660.6:c.61A>G | ENSP00000437361.1:p.Lys21Glu | |
NM_032601.3:c.346A>G | NP_115990.3:p.Lys116Glu | |
XM_005264613.2:c.216+130A>G | XP_005264670.1:n.216+130A>G | |
XR_939729.1:n.415A>G | ||
XR_939729.2:n.415A>G | ||
NM_032601.4:c.346A>G MANE Select | NP_115990.3:p.Lys116Glu |