HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136046355T>C , CM000667.2:g.136046355T>C | GRCh38 |
NC_000005.9:g.135382044T>C , CM000667.1:g.135382044T>C | GRCh37 |
NC_000005.8:g.135409943T>C | NCBI36 |
NG_012646.1:g.22461T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442011.7:c.319T>C MANE Select | ENSP00000416330.2:p.Tyr107His | |
ENST00000442011.6:c.319T>C | ENSP00000416330.2:p.Tyr107His | |
ENST00000504185.5:n.476T>C | ||
ENST00000506699.5:n.384T>C | ||
ENST00000507018.5:c.236T>C | ||
ENST00000515433.1:n.611T>C | ||
NM_000358.2:c.319T>C | NP_000349.1:p.Tyr107His | |
NM_000358.3:c.319T>C MANE Select | NP_000349.1:p.Tyr107His |