HGVS | Genome Assembly |
---|---|
NC_000012.12:g.34026845C>G , CM000674.2:g.34026845C>G | GRCh38 |
NC_000012.11:g.34179780C>G , CM000674.1:g.34179780C>G | GRCh37 |
NC_000012.10:g.34071047C>G | NCBI36 |
NG_016389.1:g.9565C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266483.7:c.1352C>G MANE Select | ENSP00000266483.2:p.Thr451Ser | |
ENST00000266483.6:c.1352C>G | ENSP00000266483.2:p.Thr451Ser | |
ENST00000538927.1:c.369+2686C>G | ENSP00000444084.1:n.369+2686C>G | |
ENST00000541875.1:c.*1092C>G | ENSP00000443142.1:n.*1092C>G | |
NM_032834.3:c.1352C>G | NP_116223.3:p.Thr451Ser | |
XM_024449230.1:c.1172C>G | XP_024304998.1:p.Thr391Ser | |
XM_024449231.1:c.1172C>G | XP_024304999.1:p.Thr391Ser | |
NM_032834.4:c.1352C>G MANE Select | NP_116223.3:p.Thr451Ser |