HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101421866C>G , CM000671.2:g.101421866C>G | GRCh38 |
NC_000009.11:g.104184148C>G , CM000671.1:g.104184148C>G | GRCh37 |
NC_000009.10:g.103223969C>G | NCBI36 |
NG_012387.1:g.18915G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.1038G>C MANE Select | ENSP00000497767.1:p.Thr346= | |
ENST00000648064.1:c.1038G>C | ENSP00000497990.1:p.Thr346= | |
ENST00000648758.1:c.1038G>C | ENSP00000497731.1:p.Thr346= | |
ENST00000374855.8:c.1038G>C | ENSP00000363988.4:p.Thr346= | |
ENST00000616752.1:c.*50G>C | ENSP00000481363.1:n.*50G>C | |
NM_000035.3:c.1038G>C | NP_000026.2:p.Thr346= | |
NM_000035.4:c.1038G>C MANE Select | NP_000026.2:p.Thr346= |