HGVS | Genome Assembly |
---|---|
NC_000004.12:g.88008474C>A , CM000666.2:g.88008474C>A | GRCh38 |
NC_000004.11:g.88929626C>A , CM000666.1:g.88929626C>A | GRCh37 |
NC_000004.10:g.89148650C>A | NCBI36 |
NG_008604.1:g.5807C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237596.7:c.595+146C>A MANE Select | ENSP00000237596.2:n.595+146C>A | |
ENST00000237596.6:c.595+146C>A | ENSP00000237596.2:n.595+146C>A | |
ENST00000506727.1:n.97+146C>A | ||
NM_000297.3:c.595+146C>A | NP_000288.1:n.595+146C>A | |
XM_011532028.1:c.595+146C>A | XP_011530330.1:n.595+146C>A | |
XR_244632.2:n.690+146C>A | ||
NR_156488.1:n.682+146C>A | ||
XM_011532028.2:c.595+146C>A | XP_011530330.1:n.595+146C>A | |
NM_000297.4:c.595+146C>A MANE Select | NP_000288.1:n.595+146C>A | |
NR_156488.2:n.694+146C>A |