HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15889445A>G , CM000681.2:g.15889445A>G | GRCh38 |
NC_000019.9:g.16000255A>G , CM000681.1:g.16000255A>G | GRCh37 |
NC_000019.8:g.15861255A>G | NCBI36 |
NG_007971.2:g.13630T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221700.11:c.896T>C MANE Select | ENSP00000221700.3:p.Ile299Thr | |
ENST00000011989.11:c.896T>C | ENSP00000011989.8:p.Ile299Thr | |
ENST00000221700.10:c.896T>C | ENSP00000221700.3:p.Ile299Thr | |
ENST00000392846.7:n.839T>C | ||
ENST00000587671.2:c.*481T>C | ENSP00000467443.2:n.*481T>C | |
NM_001082.4:c.896T>C | NP_001073.3:p.Ile299Thr | |
NM_001082.5:c.896T>C MANE Select | NP_001073.3:p.Ile299Thr |