HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30756590A>C , CM000678.2:g.30756590A>C | GRCh38 |
NC_000016.9:g.30767911A>C , CM000678.1:g.30767911A>C | GRCh37 |
NC_000016.8:g.30675412A>C | NCBI36 |
NG_016616.1:g.13292A>C | |
NG_016616.2:g.13292A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000563588.6:c.802A>C MANE Select | ENSP00000455607.1:p.Ile268Leu | |
ENST00000328273.11:c.814A>C | ENSP00000329968.7:p.Ile272Leu | |
ENST00000424889.7:c.802A>C | ENSP00000388571.3:p.Ile268Leu | |
ENST00000563588.5:c.802A>C | ENSP00000455607.1:p.Ile268Leu | |
ENST00000563913.5:n.1135A>C | ||
ENST00000564838.5:n.931A>C | ||
NM_000294.2:c.802A>C | NP_000285.1:p.Ile268Leu | |
NM_001172432.1:c.802A>C | NP_001165903.1:p.Ile268Leu | |
NM_000294.3:c.802A>C MANE Select | NP_000285.1:p.Ile268Leu | |
NM_001172432.2:c.802A>C | NP_001165903.1:p.Ile268Leu |