HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101425602A>C , CM000671.2:g.101425602A>C | GRCh38 |
NC_000009.11:g.104187884A>C , CM000671.1:g.104187884A>C | GRCh37 |
NC_000009.10:g.103227705A>C | NCBI36 |
NG_012387.1:g.15179T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.650T>G MANE Select | ENSP00000497767.1:p.Leu217Arg | |
ENST00000648064.1:c.650T>G | ENSP00000497990.1:p.Leu217Arg | |
ENST00000648758.1:c.650T>G | ENSP00000497731.1:p.Leu217Arg | |
ENST00000649902.1:c.650T>G | ENSP00000497216.1:p.Leu217Arg | |
ENST00000374855.8:c.650T>G | ENSP00000363988.4:p.Leu217Arg | |
ENST00000468981.3:n.177T>G | ||
ENST00000616752.1:c.650T>G | ENSP00000481363.1:p.Leu217Arg | |
NM_000035.3:c.650T>G | NP_000026.2:p.Leu217Arg | |
NM_000035.4:c.650T>G MANE Select | NP_000026.2:p.Leu217Arg |