HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99949596T>C , CM000666.2:g.99949596T>C | GRCh38 |
NC_000004.11:g.100870753T>C , CM000666.1:g.100870753T>C | GRCh37 |
NC_000004.10:g.101089776T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000296417.6:c.81+67A>G MANE Select | ENSP00000296417.5:n.81+67A>G | |
ENST00000651623.1:c.81+67A>G | ENSP00000498935.1:n.81+67A>G | |
ENST00000296417.5:c.81+67A>G | ENSP00000296417.5:n.81+67A>G | |
ENST00000511203.1:n.704A>G | ||
ENST00000511319.5:n.606+67A>G | ||
ENST00000511348.1:n.333A>G | ||
ENST00000527366.1:n.165+67A>G | ||
ENST00000529158.5:n.130+67A>G | ||
NM_002106.3:c.81+67A>G | NP_002097.1:n.81+67A>G | |
NM_002106.4:c.81+67A>G MANE Select | NP_002097.1:n.81+67A>G |