HGVS | Genome Assembly |
---|---|
NC_000002.12:g.157421708A>G , CM000664.2:g.157421708A>G | GRCh38 |
NC_000002.11:g.158278220A>G , CM000664.1:g.158278220A>G | GRCh37 |
NC_000002.10:g.157986466A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264192.8:c.547-3119T>C MANE Select | ENSP00000264192.3:n.547-3119T>C | |
ENST00000264192.7:c.547-3119T>C | ENSP00000264192.3:n.547-3119T>C | |
ENST00000418920.5:c.229-3119T>C | ENSP00000394308.1:n.229-3119T>C | |
ENST00000457793.6:c.*442-3119T>C | ENSP00000407205.2:n.*442-3119T>C | |
NM_004288.4:c.547-3119T>C | NP_004279.3:n.547-3119T>C | |
XM_017005386.2:c.229-3119T>C | XP_016860875.1:n.229-3119T>C | |
NM_004288.5:c.547-3119T>C MANE Select | NP_004279.3:n.547-3119T>C |