HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99949752A>C , CM000666.2:g.99949752A>C | GRCh38 |
NC_000004.11:g.100870909A>C , CM000666.1:g.100870909A>C | GRCh37 |
NC_000004.10:g.101089932A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296417.6:c.4-12T>G MANE Select | ENSP00000296417.5:n.4-12T>G | |
ENST00000651623.1:c.4-12T>G | ENSP00000498935.1:n.4-12T>G | |
ENST00000296417.5:c.4-12T>G | ENSP00000296417.5:n.4-12T>G | |
ENST00000511203.1:n.548T>G | ||
ENST00000511319.5:n.517T>G | ||
ENST00000511348.1:n.189-12T>G | ||
ENST00000527366.1:n.88-12T>G | ||
ENST00000529158.5:n.53-12T>G | ||
NM_002106.3:c.4-12T>G | NP_002097.1:n.4-12T>G | |
NM_002106.4:c.4-12T>G MANE Select | NP_002097.1:n.4-12T>G |