HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99420542A>G , CM000666.2:g.99420542A>G | GRCh38 |
NC_000004.11:g.100341699A>G , CM000666.1:g.100341699A>G | GRCh37 |
NC_000004.10:g.100560722A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000437033.7:c.816T>C MANE Select | ENSP00000414254.2:p.Leu272= | |
ENST00000209665.8:c.852T>C | ENSP00000209665.4:p.Leu284= | |
ENST00000437033.6:c.816T>C | ENSP00000414254.2:p.Leu272= | |
ENST00000476959.5:c.876T>C | ENSP00000420269.1:p.Leu292= | |
ENST00000482593.5:c.645T>C | ENSP00000420613.1:p.Leu215= | |
NM_000673.4:c.852T>C | NP_000664.2:p.Leu284= | |
NM_001166504.1:c.876T>C | NP_001159976.1:p.Leu292= | |
NM_000673.7:c.816T>C MANE Select | NP_000664.3:p.Leu272= | |
NM_001166504.2:c.876T>C | NP_001159976.1:p.Leu292= |