HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6018387G= , CM000674.2:g.6018387G= | GRCh38 |
NC_000012.11:g.6127553G= , CM000674.1:g.6127553G= | GRCh37 |
NC_000012.10:g.5997814G= | NCBI36 |
NG_009072.1:g.111284C= | |
NG_009072.2:g.111284C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.5031C= MANE Select | ENSP00000261405.5:p.Ile1677= | |
ENST00000261405.9:c.5031C= | ENSP00000261405.5:p.Ile1677= | |
ENST00000538635.5:n.421-24453C= | ||
NM_000552.3:c.5031C= | NP_000543.2:p.Ile1677= | |
NM_000552.4:c.5031C= | NP_000543.2:p.Ile1677= | |
NM_000552.5:c.5031C= MANE Select | NP_000543.3:p.Ile1677= |