HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18785997A>G , CM000681.2:g.18785997A>G | GRCh38 |
NC_000019.9:g.18896807A>G , CM000681.1:g.18896807A>G | GRCh37 |
NC_000019.8:g.18757807A>G | NCBI36 |
NG_007070.1:g.10308T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1457T>C MANE Select | ENSP00000222271.2:p.Leu486Pro | |
ENST00000222271.6:c.1457T>C | ENSP00000222271.2:p.Leu486Pro | |
ENST00000425807.1:c.1298T>C | ENSP00000403792.1:p.Leu433Pro | |
ENST00000542601.6:c.1358T>C | ENSP00000439156.2:p.Leu453Pro | |
NM_000095.2:c.1457T>C | NP_000086.2:p.Leu486Pro | |
NM_000095.3:c.1457T>C MANE Select | NP_000086.2:p.Leu486Pro |