HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75764640T>A , CM000676.2:g.75764640T>A | GRCh38 |
NC_000014.8:g.76230983T>A , CM000676.1:g.76230983T>A | GRCh37 |
NC_000014.7:g.75300736T>A | NCBI36 |
NG_016974.1:g.108433T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298832.14:c.1576T>A MANE Select | ENSP00000298832.9:p.Leu526Met | |
ENST00000298832.13:c.1576T>A | ENSP00000298832.9:p.Leu526Met | |
ENST00000554510.5:c.103T>A | ENSP00000451946.1:p.Leu35Met | |
ENST00000555422.5:n.882T>A | ||
ENST00000556893.5:c.229T>A | ENSP00000452524.1:p.Leu77Met | |
ENST00000556976.1:n.310T>A | ||
ENST00000557636.5:c.1618T>A | ENSP00000450713.1:p.Leu540Met | |
NM_015072.4:c.1576T>A | NP_055887.3:p.Leu526Met | |
NM_015072.5:c.1576T>A MANE Select | NP_055887.3:p.Leu526Met |