HGVS | Genome Assembly |
---|---|
NC_000007.14:g.151056377A>G , CM000669.2:g.151056377A>G | GRCh38 |
NC_000007.13:g.150753464A>G , CM000669.1:g.150753464A>G | GRCh37 |
NC_000007.12:g.150384397A>G | NCBI36 |
NG_042167.1:g.6589T>C | |
NG_051947.1:g.3178A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000485972.6:c.312+203T>C MANE Select | ENSP00000419782.1:n.312+203T>C | |
ENST00000297518.4:c.312+203T>C | ENSP00000297518.4:n.312+203T>C | |
ENST00000485972.5:c.312+203T>C | ENSP00000419782.1:n.312+203T>C | |
ENST00000487703.5:n.676+203T>C | ||
NM_001164410.2:c.312+203T>C | NP_001157882.1:n.312+203T>C | |
NM_004935.3:c.312+203T>C | NP_004926.1:n.312+203T>C | |
NM_004935.4:c.312+203T>C MANE Select | NP_004926.1:n.312+203T>C | |
NM_001164410.3:c.312+203T>C | NP_001157882.1:n.312+203T>C |