HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104033989A>T , CM000672.2:g.104033989A>T | GRCh38 |
NC_000010.10:g.105793747A>T , CM000672.1:g.105793747A>T | GRCh37 |
NC_000010.9:g.105783737A>T | NCBI36 |
NG_007069.1:g.56892T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369733.8:c.3866T>A | ENSP00000358748.3:p.Leu1289Gln | |
ENST00000647647.1:c.142T>A | ||
ENST00000648076.2:c.4112T>A MANE Select | ENSP00000497653.1:p.Leu1371Gln | |
ENST00000353479.9:c.4112T>A | ENSP00000340937.5:p.Leu1371Gln | |
ENST00000369733.7:c.3866T>A | ENSP00000358748.3:p.Leu1289Gln | |
NM_000494.3:c.4112T>A | NP_000485.3:p.Leu1371Gln | |
NM_000494.4:c.4112T>A MANE Select | NP_000485.3:p.Leu1371Gln |