HGVS | Genome Assembly |
---|---|
NC_000005.10:g.170288034A>G , CM000667.2:g.170288034A>G | GRCh38 |
NC_000005.9:g.169715038A>G , CM000667.1:g.169715038A>G | GRCh37 |
NC_000005.8:g.169647616A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000046794.10:c.142-18T>C MANE Select | ENSP00000046794.5:n.142-18T>C | |
ENST00000046794.9:c.142-18T>C | ENSP00000046794.5:n.142-18T>C | |
ENST00000519149.1:n.315-18T>C | ||
ENST00000519594.5:n.258-18T>C | ||
ENST00000522760.5:n.260-18T>C | ||
ENST00000522823.5:n.346-18T>C | ||
ENST00000628092.2:c.142-18T>C | ENSP00000487460.1:n.142-18T>C | |
NM_005565.3:c.142-18T>C | NP_005556.1:n.142-18T>C | |
XM_011534558.1:c.142-18T>C | XP_011532860.1:n.142-18T>C | |
NM_005565.4:c.142-18T>C | NP_005556.1:n.142-18T>C | |
NM_005565.5:c.142-18T>C MANE Select | NP_005556.1:n.142-18T>C |