HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6018494T>C , CM000674.2:g.6018494T>C | GRCh38 |
NC_000012.11:g.6127660T>C , CM000674.1:g.6127660T>C | GRCh37 |
NC_000012.10:g.5997921T>C | NCBI36 |
NG_009072.1:g.111177A>G | |
NG_009072.2:g.111177A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261405.10:c.4924A>G MANE Select | ENSP00000261405.5:p.Ile1642Val | |
ENST00000261405.9:c.4924A>G | ENSP00000261405.5:p.Ile1642Val | |
ENST00000538635.5:n.421-24560A>G | ||
NM_000552.3:c.4924A>G | NP_000543.2:p.Ile1642Val | |
NM_000552.4:c.4924A>G | NP_000543.2:p.Ile1642Val | |
NM_000552.5:c.4924A>G MANE Select | NP_000543.3:p.Ile1642Val |