HGVS | Genome Assembly |
---|---|
NC_000005.10:g.80873027A>G , CM000667.2:g.80873027A>G | GRCh38 |
NC_000005.9:g.80168846A>G , CM000667.1:g.80168846A>G | GRCh37 |
NC_000005.8:g.80204602A>G | NCBI36 |
NG_016607.1:g.223553A>G | |
NG_016607.2:g.223553A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000265081.7:c.3131-89A>G MANE Select | ENSP00000265081.6:n.3131-89A>G | |
ENST00000658259.1:c.2963-89A>G | ENSP00000499617.1:n.2963-89A>G | |
ENST00000659302.1:c.539-89A>G | ||
ENST00000667069.1:c.2936-89A>G | ENSP00000499502.1:n.2936-89A>G | |
ENST00000670357.1:c.*455-89A>G | ENSP00000499791.1:n.*455-89A>G | |
ENST00000265081.6:c.3131-89A>G | ENSP00000265081.6:n.3131-89A>G | |
NM_002439.4:c.3131-89A>G | NP_002430.3:n.3131-89A>G | |
NM_002439.5:c.3131-89A>G MANE Select | NP_002430.3:n.3131-89A>G |