HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9214464G= , CM000681.2:g.9214464G= | GRCh38 |
NC_000019.9:g.9325140G= , CM000681.1:g.9325140G= | GRCh37 |
NC_000019.8:g.9186140G= | NCBI36 |
NG_027953.1:g.5408C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000641244.1:c.374C= | ENSP00000493404.1:p.Ala125= | |
ENST00000641669.1:c.374C= MANE Select | ENSP00000493383.1:p.Ala125= | |
ENST00000308682.3:c.374C= | ENSP00000310488.2:p.Ala125= | |
NM_001005191.2:c.374C= | NP_001005191.1:p.Ala125= | |
NM_001005191.3:c.374C= MANE Select | NP_001005191.1:p.Ala125= |