HGVS | Genome Assembly |
---|---|
NC_000001.11:g.77092380A>G , CM000663.2:g.77092380A>G | GRCh38 |
NC_000001.10:g.77558065A>G , CM000663.1:g.77558065A>G | GRCh37 |
NC_000001.9:g.77330653A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000370812.8:c.1182T>C MANE Select | ENSP00000359848.3:p.Ile394= | |
ENST00000370812.7:c.1182T>C | ENSP00000359848.3:p.Ile394= | |
ENST00000445065.5:c.900T>C | ENSP00000388854.1:p.Ile300= | |
ENST00000487906.5:c.755T>C | ENSP00000474518.1:n.755T>C | |
NM_005482.2:c.1182T>C | NP_005473.1:p.Ile394= | |
NM_005482.3:c.1182T>C MANE Select | NP_005473.1:p.Ile394= |