HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160882168A>G , CM000663.2:g.160882168A>G | GRCh38 |
NC_000001.10:g.160851958A>G , CM000663.1:g.160851958A>G | GRCh37 |
NC_000001.9:g.159118582A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000326245.4:c.194T>C MANE Select | ENSP00000323587.3:p.Ile65Thr | |
ENST00000326245.3:c.194T>C | ENSP00000323587.3:p.Ile65Thr | |
ENST00000464077.1:n.128T>C | ||
NM_017625.2:c.194T>C | NP_060095.2:p.Ile65Thr | |
NM_017625.3:c.194T>C MANE Select | NP_060095.2:p.Ile65Thr |