HGVS | Genome Assembly |
---|---|
NC_000006.12:g.34762628A>C , CM000668.2:g.34762628A>C | GRCh38 |
NC_000006.11:g.34730405A>C , CM000668.1:g.34730405A>C | GRCh37 |
NC_000006.10:g.34838383A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000244520.10:c.85A>C MANE Select | ENSP00000244520.5:p.Lys29Gln | |
ENST00000244520.9:c.85A>C | ENSP00000244520.5:p.Lys29Gln | |
ENST00000374017.3:c.148A>C | ENSP00000363129.3:p.Lys50Gln | |
ENST00000374018.5:c.-39A>C | ENSP00000363130.1:n.-39A>C | |
ENST00000474635.1:n.77A>C | ||
NM_003093.2:c.85A>C | NP_003084.1:p.Lys29Gln | |
NR_029472.1:n.492A>C | ||
NM_003093.3:c.85A>C MANE Select | NP_003084.1:p.Lys29Gln | |
NR_029472.2:n.81A>C |