HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52492657T>G , CM000674.2:g.52492657T>G | GRCh38 |
NC_000012.11:g.52886441T>G , CM000674.1:g.52886441T>G | GRCh37 |
NC_000012.10:g.51172708T>G | NCBI36 |
NG_008298.1:g.5741A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330722.7:c.532A>C MANE Select | ENSP00000369317.3:p.Ile178Leu | |
ENST00000330722.6:c.532A>C | ENSP00000369317.3:p.Ile178Leu | |
ENST00000549898.5:n.53A>C | ||
NM_005554.3:c.532A>C | NP_005545.1:p.Ile178Leu | |
NM_005554.4:c.532A>C MANE Select | NP_005545.1:p.Ile178Leu |