HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75764674T>G , CM000676.2:g.75764674T>G | GRCh38 |
NC_000014.8:g.76231017T>G , CM000676.1:g.76231017T>G | GRCh37 |
NC_000014.7:g.75300770T>G | NCBI36 |
NG_016974.1:g.108467T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298832.14:c.1610T>G MANE Select | ENSP00000298832.9:p.Leu537Arg | |
ENST00000298832.13:c.1610T>G | ENSP00000298832.9:p.Leu537Arg | |
ENST00000554510.5:c.137T>G | ENSP00000451946.1:p.Leu46Arg | |
ENST00000555422.5:n.916T>G | ||
ENST00000556893.5:c.263T>G | ENSP00000452524.1:p.Leu88Arg | |
ENST00000556976.1:n.344T>G | ||
ENST00000557636.5:c.1652T>G | ENSP00000450713.1:p.Leu551Arg | |
NM_015072.4:c.1610T>G | NP_055887.3:p.Leu537Arg | |
NM_015072.5:c.1610T>G MANE Select | NP_055887.3:p.Leu537Arg |