HGVS | Genome Assembly |
---|---|
NC_000002.12:g.178014367T>G , CM000664.2:g.178014367T>G | GRCh38 |
NC_000002.11:g.178879094T>G , CM000664.1:g.178879094T>G | GRCh37 |
NC_000002.10:g.178587340T>G | NCBI36 |
NG_012168.1:g.98973A>C | |
NG_012168.2:g.98973A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286063.11:c.1006A>C MANE Select | ENSP00000286063.5:p.Ile336Leu | |
ENST00000286063.10:c.1006A>C | ENSP00000286063.5:p.Ile336Leu | |
ENST00000358450.8:c.256A>C | ENSP00000351232.4:p.Ile86Leu | |
NM_001077197.1:c.256A>C | NP_001070665.1:p.Ile86Leu | |
NM_016953.3:c.1006A>C | NP_058649.3:p.Ile336Leu | |
NM_016953.4:c.1006A>C MANE Select | NP_058649.3:p.Ile336Leu | |
NM_001077197.2:c.256A>C | NP_001070665.1:p.Ile86Leu |