HGVS | Genome Assembly |
---|---|
NC_000011.10:g.62613541G>T , CM000673.2:g.62613541G>T | GRCh38 |
NC_000011.9:g.62381013G>T , CM000673.1:g.62381013G>T | GRCh37 |
NC_000011.8:g.62137589G>T | NCBI36 |
NG_009845.1:g.5801G>T | |
NG_031863.1:g.13635C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000278833.4:c.260G>T MANE Select | ENSP00000278833.3:p.Ser87Ile | |
ENST00000278833.3:c.260G>T | ENSP00000278833.3:p.Ser87Ile | |
ENST00000525801.1:c.-38-717G>T | ENSP00000433566.1:n.-38-717G>T | |
ENST00000525947.1:c.-273G>T | ENSP00000432983.1:n.-273G>T | |
ENST00000534093.5:c.-38-717G>T | ENSP00000432151.1:n.-38-717G>T | |
NM_000327.3:c.260G>T | NP_000318.1:p.Ser87Ile | |
NM_000327.4:c.260G>T MANE Select | NP_000318.2:p.Ser87Ile |