HGVS | Genome Assembly |
---|---|
NC_000002.12:g.71124245C>G , CM000664.2:g.71124245C>G | GRCh38 |
NC_000002.11:g.71351375C>G , CM000664.1:g.71351375C>G | GRCh37 |
NC_000002.10:g.71204883C>G | NCBI36 |
NG_008977.1:g.11020G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000244217.6:c.339G>C MANE Select | ENSP00000244217.5:p.Gln113His | |
ENST00000244217.5:c.339G>C | ENSP00000244217.5:p.Gln113His | |
ENST00000413592.5:c.84+123G>C | ENSP00000391140.1:n.84+123G>C | |
ENST00000486135.1:c.54G>C | ENSP00000441569.1:p.Gln18His | |
ENST00000494660.6:c.54G>C | ENSP00000437361.1:p.Gln18His | |
NM_032601.3:c.339G>C | NP_115990.3:p.Gln113His | |
XM_005264613.2:c.216+123G>C | XP_005264670.1:n.216+123G>C | |
XR_939729.1:n.408G>C | ||
XR_939729.2:n.408G>C | ||
NM_032601.4:c.339G>C MANE Select | NP_115990.3:p.Gln113His |