HGVS | Genome Assembly |
---|---|
NC_000001.11:g.151400574T>C , CM000663.2:g.151400574T>C | GRCh38 |
NC_000001.10:g.151373050T>C , CM000663.1:g.151373050T>C | GRCh37 |
NC_000001.9:g.149639674T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290541.7:c.480T>C MANE Select | ENSP00000290541.6:p.Tyr160= | |
ENST00000290541.6:c.480T>C | ENSP00000290541.6:p.Tyr160= | |
ENST00000474100.1:n.147T>C | ||
ENST00000476467.1:n.735T>C | ||
ENST00000493673.1:n.476T>C | ||
ENST00000495288.5:n.508T>C | ||
ENST00000495805.5:n.489T>C | ||
NM_002796.2:c.480T>C | NP_002787.2:p.Tyr160= | |
NM_002796.3:c.480T>C MANE Select | NP_002787.2:p.Tyr160= |