HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1535777A>G , CM000663.2:g.1535777A>G | GRCh38 |
NC_000001.10:g.1471157A>G , CM000663.1:g.1471157A>G | GRCh37 |
NC_000001.9:g.1461020A>G | NCBI36 |
NG_041807.1:g.9584T>C | |
NG_053035.1:g.28635A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378733.9:c.185T>C MANE Select | ENSP00000368007.4:p.Ile62Thr | |
ENST00000378733.8:c.185T>C | ENSP00000368007.4:p.Ile62Thr | |
ENST00000425828.1:c.185T>C | ENSP00000400311.1:p.Ile62Thr | |
NM_001114748.1:c.185T>C | NP_001108220.1:p.Ile62Thr | |
NM_001114748.2:c.185T>C MANE Select | NP_001108220.1:p.Ile62Thr |