HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30756592C= , CM000678.2:g.30756592C= | GRCh38 |
NC_000016.9:g.30767913C= , CM000678.1:g.30767913C= | GRCh37 |
NC_000016.8:g.30675414C= | NCBI36 |
NG_016616.1:g.13294C= | |
NG_016616.2:g.13294C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000563588.6:c.804C= MANE Select | ENSP00000455607.1:p.Ile268= | |
ENST00000328273.11:c.816C= | ENSP00000329968.7:p.Ile272= | |
ENST00000424889.7:c.804C= | ENSP00000388571.3:p.Ile268= | |
ENST00000563588.5:c.804C= | ENSP00000455607.1:p.Ile268= | |
ENST00000563913.5:n.1137C= | ||
ENST00000564838.5:n.933C= | ||
NM_000294.2:c.804C= | NP_000285.1:p.Ile268= | |
NM_001172432.1:c.804C= | NP_001165903.1:p.Ile268= | |
NM_000294.3:c.804C= MANE Select | NP_000285.1:p.Ile268= | |
NM_001172432.2:c.804C= | NP_001165903.1:p.Ile268= |