HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99949602A>G , CM000666.2:g.99949602A>G | GRCh38 |
NC_000004.11:g.100870759A>G , CM000666.1:g.100870759A>G | GRCh37 |
NC_000004.10:g.101089782A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296417.6:c.81+61T>C MANE Select | ENSP00000296417.5:n.81+61T>C | |
ENST00000651623.1:c.81+61T>C | ENSP00000498935.1:n.81+61T>C | |
ENST00000296417.5:c.81+61T>C | ENSP00000296417.5:n.81+61T>C | |
ENST00000511203.1:n.698T>C | ||
ENST00000511319.5:n.606+61T>C | ||
ENST00000511348.1:n.327T>C | ||
ENST00000527366.1:n.165+61T>C | ||
ENST00000529158.5:n.130+61T>C | ||
NM_002106.3:c.81+61T>C | NP_002097.1:n.81+61T>C | |
NM_002106.4:c.81+61T>C MANE Select | NP_002097.1:n.81+61T>C |