HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64753522G>C , CM000673.2:g.64753522G>C | GRCh38 |
NC_000011.9:g.64520994G>C , CM000673.1:g.64520994G>C | GRCh37 |
NC_000011.8:g.64277570G>C | NCBI36 |
NG_013018.1:g.12194C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000164139.4:c.1400C>G MANE Select | ENSP00000164139.3:p.Thr467Ser | |
ENST00000164139.3:c.1400C>G | ENSP00000164139.3:p.Thr467Ser | |
ENST00000377432.7:c.1136C>G | ENSP00000366650.3:p.Thr379Ser | |
NM_001164716.1:c.1136C>G | NP_001158188.1:p.Thr379Ser | |
NM_005609.2:c.1400C>G | NP_005600.1:p.Thr467Ser | |
NM_005609.3:c.1400C>G | NP_005600.1:p.Thr467Ser | |
NM_005609.4:c.1400C>G MANE Select | NP_005600.1:p.Thr467Ser |