HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173331T>C , CM000678.2:g.173331T>C | GRCh38 |
NC_000016.9:g.223330T>C , CM000678.1:g.223330T>C | GRCh37 |
NC_000016.8:g.163330T>C | NCBI36 |
NG_000006.1:g.34194T>C | |
NG_059186.1:g.1681T>C | |
NG_059271.1:g.5485T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.300+2T>C MANE Select | ENSP00000251595.6:n.300+2T>C | |
ENST00000251595.10:c.300+2T>C | ENSP00000251595.6:n.300+2T>C | |
ENST00000397806.1:c.204+2T>C | ENSP00000380908.1:n.204+2T>C | |
ENST00000482565.1:n.436+2T>C | ||
ENST00000484216.1:n.271T>C | ||
NM_000517.4:c.300+2T>C | NP_000508.1:n.300+2T>C | |
NM_000517.6:c.300+2T>C MANE Select | NP_000508.1:n.300+2T>C |