HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2278418T>G , CM000678.2:g.2278418T>G | GRCh38 |
NC_000016.9:g.2328419T>G , CM000678.1:g.2328419T>G | GRCh37 |
NC_000016.8:g.2268420T>G | NCBI36 |
NG_011790.1:g.67329A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.4588A>C MANE Select | ENSP00000301732.5:p.Ile1530Leu | |
ENST00000301732.9:c.4588A>C | ENSP00000301732.5:p.Ile1530Leu | |
ENST00000382381.7:c.4414A>C | ENSP00000371818.3:p.Ile1472Leu | |
ENST00000566200.1:n.1109A>C | ||
NM_001089.2:c.4588A>C | NP_001080.2:p.Ile1530Leu | |
NM_001089.3:c.4588A>C MANE Select | NP_001080.2:p.Ile1530Leu |